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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P2RY14_chr3_151207117_151283542 | 151261685 | GTGTTTTG others(8): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(196): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0120 others(192): Show |
199 | 404 | 0.4926 | -15 | c.-13 others(36): Show |
P2RY14 | ENSG00000174944.9 | transcript | ENST00000309170.8 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
P2RY2_chr11_73213281_73247427 | 73237702 | CCAGGGGC others(8): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18942.hp1 | a0003 | a0003c0004 | a0003c0004t0057 | a0003c0004t0057g0017 | 1 | 416 | 0.0024 | -15 | c.*24 others(26): Show |
P2RY2 | ENSG00000175591.12 | transcript | ENST00000393597.7 | protein_coding | 3/3 | 2410 | chr11 | TogoVar | ||||||
P2RY4_chrX_70253166_70265204 | 70264605 | AATGCATG others(8): Show |
A | upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 329 | 0.0030 | -15 | c.-49 others(26): Show |
P2RY4 | ENSG00000186912.7 | transcript | ENST00000374519.4 | protein_coding | 4402 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1459358 | TATCTATG others(8): Show |
T | downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0012 | 1 | 114 | 0.0088 | -15 | c.*61 others(26): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 3222 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1530145 | GTATGTAT others(8): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 NA18970.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0003others(1): Show | a0001c0001t0001g0095 a0001c0001t0003g0069 a0001c0003t0003g0068 others(1): Show |
4 | 114 | 0.0351 | -15 | c.-25 others(32): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1530149 | GTATGTAT others(8): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00639.hp2 others(14): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0026 a0001c0001t0001g0047 a0001c0001t0001g0063 others(14): Show |
17 | 114 | 0.1491 | -15 | c.-25 others(32): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1530153 | GTATGATC others(8): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01123.hp2 others(3): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0007 | a0001c0001t0001a0001c0001t0008a0002c0002t0004others(2): Show | a0001c0001t0001g0022 a0001c0001t0008g0020 a0001c0001t0008g0099 others(3): Show |
6 | 114 | 0.0526 | -15 | c.-25 others(32): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1530157 | GATCTATC others(8): Show |
G | intron_variant | MODIFIER | HG02897.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0029a0001c0003t0011 | a0001c0001t0029g0054 a0001c0003t0011g0002 |
2 | 114 | 0.0175 | -15 | c.-25 others(32): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P3H2_chr3_189951728_190125897 | 189973507 | CTTTCTTT others(8): Show |
C | intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0130 | 1 | 304 | 0.0033 | -15 | c.154 others(32): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 10/14 | chr3 | TogoVar | |||||||
P3H2_chr3_189951728_190125897 | 190041092 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02622.hp2 HG02647.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0019 | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(2): Show | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0078 others(6): Show |
9 | 304 | 0.0296 | -15 | c.481 others(34): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
P3H2_chr3_189951728_190125897 | 190041093 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00639.hp2 others(33): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0071 a0001c0001t0001g0140 a0001c0001t0001g0149 others(33): Show |
36 | 304 | 0.1184 | -15 | c.481 others(34): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
P3H2_chr3_189951728_190125897 | 190119165 | GGGAGGGG others(8): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG02280.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0294 a0001c0001t0002g0292 a0001c0001t0003g0295 others(1): Show |
4 | 304 | 0.0132 | -15 | c.480 others(32): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
P3H2_chr3_189951728_190125897 | 190119170 | GGGAGAGG others(8): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02257.hp2 others(9): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0097 a0001c0001t0003g0099 a0001c0001t0005g0094 others(9): Show |
12 | 304 | 0.0395 | -15 | c.480 others(32): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73059423 | TTAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG01081.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0014 | a0001c0001t0002g0002 a0001c0001t0002g0022 a0001c0001t0002g0027 others(5): Show |
8 | 234 | 0.0342 | -15 | c.464 others(32): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 5/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73093860 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0108 | 1 | 234 | 0.0043 | -15 | c.-33 others(32): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
P4HA3_chr11_74261657_74316640 | 74313478 | TCCTTCCT others(8): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(101): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0109 others(61): Show |
104 | 398 | 0.2613 | -15 | c.-18 others(26): Show |
P4HA3 | ENSG00000149380.12 | transcript | ENST00000331597.9 | protein_coding | 1839 | chr11 | TogoVar | |||||||
PA2G4_chr12_56099559_56118910 | 56116165 | GAAAAGAA others(8): Show |
G | downstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 352 | 0.0028 | -15 | c.*32 others(26): Show |
PA2G4 | ENSG00000170515.14 | transcript | ENST00000303305.11 | protein_coding | 2256 | chr12 | TogoVar | |||||||
PAAF1_chr11_73871999_73936114 | 73880687 | GAAAAAAA others(8): Show |
G | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0089 | 1 | 370 | 0.0027 | -15 | c.88+ others(30): Show |
PAAF1 | ENSG00000175575.13 | transcript | ENST00000310571.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PAAF1_chr11_73871999_73936114 | 73900981 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00609.hp1 others(54): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0022a0002c0002t0002a0002c0002t0010others(3): Show | a0001c0001t0022g0261 a0001c0001t0022g0262 a0002c0002t0002g0003 others(49): Show |
57 | 370 | 0.1541 | -15 | c.532 others(30): Show |
PAAF1 | ENSG00000175575.13 | transcript | ENST00000310571.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PABIR3_chrX_134802237_134859832 | 134838653 | TCCCCCTC others(8): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01261.hp1 HG02559.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(4): Show |
7 | 199 | 0.0352 | -15 | c.247 others(32): Show |
PABIR3 | ENSG00000156500.16 | transcript | ENST00000645433.2 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PABPC1L2B_chrX_72997939_73011106 | 73003242 | TGGCGGCA others(8): Show |
T | 5_prime_UTR_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0000 | 1 | 294 | 0.0034 | -15 | c.-39 others(24): Show |
PABPC1L2B | ENSG00000184388.6 | transcript | ENST00000373521.4 | protein_coding | 1/1 | 380 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PABPC1_chr8_100697916_100727088 | 100700637 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 416 | 0.0024 | -15 | c.*27 others(26): Show |
PABPC1 | ENSG00000070756.17 | transcript | ENST00000318607.10 | protein_coding | 2278 | chr8 | TogoVar | |||||||
PABPC4_chr1_39555816_39581790 | 39565827 | CCAAAACA others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG02109.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0075 a0001c0001t0001g0091 |
4 | 374 | 0.0107 | -15 | c.973 others(30): Show |
PABPC4 | ENSG00000090621.15 | transcript | ENST00000372858.8 | protein_coding | 7/15 | chr1 | TogoVar | |||||||
PABPN1_chr14_23316457_23331163 | 23328990 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp2 HG02257.hp2 NA19059.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0003 | a0001c0001t0004g0014 a0001c0002t0003g0001 |
3 | 428 | 0.0070 | -15 | c.*37 others(26): Show |
PABPN1 | ENSG00000100836.11 | transcript | ENST00000216727.9 | protein_coding | 2828 | chr14 | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 163196921 | AGACAGAT others(8): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 130 | 0.0077 | -15 | c.613 others(36): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 163276020 | TTTCTTTC others(8): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG03209.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0003 | a0001c0001t0001g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show |
4 | 130 | 0.0308 | -15 | c.614 others(34): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 163277602 | ACTTTGTC others(8): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG03209.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0003 | a0001c0001t0001g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show |
4 | 130 | 0.0308 | -15 | c.614 others(34): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
PACS1_chr11_66065272_66249744 | 66156240 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 322 | 0.0031 | -15 | c.357 others(34): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PACS1_chr11_66065272_66249744 | 66202743 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0206 a0001c0001t0005g0207 |
2 | 322 | 0.0062 | -15 | c.445 others(32): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 2/23 | chr11 | TogoVar | |||||||
PACSIN3_chr11_47172522_47191434 | 47174367 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(9): Show |
77 | 364 | 0.2115 | -15 | c.*35 others(26): Show |
PACSIN3 | ENSG00000165912.16 | transcript | ENST00000298838.11 | protein_coding | 3154 | chr11 | TogoVar | |||||||
PADI1_chr1_17200128_17251007 | 17215381 | ATCATCAT others(8): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01071.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0001g0034 a0001c0001t0001g0367 a0001c0001t0001g0369 others(21): Show |
26 | 406 | 0.0640 | -15 | c.93- others(30): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAEP_chr9_135556756_135571955 | 135565784 | GAGCCGTG others(8): Show |
G | stop_lost others(2): Show |
HIGH | NA18988.hp1 | a0005 | a0005c0005 | a0005c0005t0010 | a0005c0005t0010g0032 | 1 | 464 | 0.0022 | -15 | c.529 others(22): Show |
p.Pro others(13): Show |
PAEP | ENSG00000122133.17 | transcript | ENST00000479141.6 | protein_coding | 6/7 | 575/992 | 529/543 | 177/180 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
PAFAH1B1_chr17_2588654_2690615 | 2621607 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(37): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(5): Show | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0078 others(37): Show |
40 | 280 | 0.1429 | -15 | c.-19 others(36): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PAFAH1B1_chr17_2588654_2690615 | 2685622 | ATTTTTTT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(124): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0034 others(124): Show |
127 | 280 | 0.4536 | -15 | c.*38 others(26): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 8 | chr17 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172389 | TATATATA others(8): Show |
T | downstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0176 | 1 | 432 | 0.0023 | -15 | c.*46 others(26): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1345 | chr11 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172390 | ATATATAT others(8): Show |
A | downstream_gene_variant | MODIFIER | NA18987.hp2 NA19065.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0001 a0001c0001t0007g0174 a0001c0001t0007g0177 |
3 | 432 | 0.0069 | -15 | c.*46 others(26): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1346 | chr11 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172392 | ATATATAT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 432 | 0.0023 | -15 | c.*46 others(26): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1348 | chr11 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172394 | ATATATAT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG01943.hp1 HG02080.hp1 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0012 | a0001c0001t0001g0001 a0001c0001t0007g0145 a0001c0001t0012g0175 |
3 | 432 | 0.0069 | -15 | c.*46 others(26): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1350 | chr11 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172398 | ATATATAT others(8): Show |
A | downstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0200 | 1 | 432 | 0.0023 | -15 | c.*47 others(26): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1354 | chr11 | TogoVar | |||||||
PAFAH2_chr1_25954767_26003063 | 25987237 | AAAAATAA others(8): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0016a0001c0002t0002 | a0001c0001t0003g0145 a0001c0001t0016g0163 a0001c0002t0002g0040 others(4): Show |
7 | 310 | 0.0226 | -15 | c.341 others(30): Show |
PAFAH2 | ENSG00000158006.14 | transcript | ENST00000374282.8 | protein_coding | 4/10 | chr1 | TogoVar | |||||||
PAGE1_chrX_49682447_49700984 | 49689566 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 322 | 0.0031 | -15 | c.293 others(28): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 4/5 | chrX | TogoVar | |||||||
PAGE1_chrX_49682447_49700984 | 49689926 | AGGGTGTA others(8): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 a0001c0001t0002g0035 |
2 | 322 | 0.0062 | -15 | c.293 others(30): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 4/5 | chrX | TogoVar | |||||||
PAGE2_chrX_55084018_55097842 | 55090351 | TATCTATC others(8): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG02922.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0028 |
3 | 316 | 0.0095 | -15 | c.85- others(28): Show |
PAGE2 | ENSG00000234068.7 | transcript | ENST00000374968.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PAH_chr12_102831889_102922244 | 102871936 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 312 | 0.0032 | -15 | c.442 others(32): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102871944 | AAAAAAAT others(8): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 312 | 0.0032 | -15 | c.442 others(32): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAICS_chr4_56431260_56469578 | 56448597 | GGTACAGA others(8): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(20): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0006a0001c0001t0014a0001c0001t0024others(4): Show | a0001c0001t0006g0009 a0001c0001t0006g0021 a0001c0001t0006g0027 others(17): Show |
23 | 380 | 0.0605 | -15 | c.573 others(28): Show |
PAICS | ENSG00000128050.9 | transcript | ENST00000512576.3 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PAIP2B_chr2_71177738_71232103 | 71207517 | AATGCACC others(8): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp1 others(79): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0032others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(54): Show |
82 | 378 | 0.2169 | -15 | c.-11 others(32): Show |
PAIP2B | ENSG00000124374.9 | transcript | ENST00000244221.9 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
PAK1_chr11_77317017_77479094 | 77429080 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0232 | 1 | 302 | 0.0033 | -15 | c.-21 others(34): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196759498 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG00408.hp1 NA18953.hp2 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0166 a0001c0001t0003g0136 a0001c0001t0007g0163 |
3 | 178 | 0.0169 | -15 | c.-22 others(34): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PAK3_chrX_111091191_111232361 | 111219190 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02897.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0028a0001c0001t0039others(1): Show | a0001c0001t0017g0152 a0001c0001t0017g0155 a0001c0001t0028g0142 others(2): Show |
5 | 195 | 0.0256 | -15 | c.154 others(34): Show |
PAK3 | ENSG00000077264.17 | transcript | ENST00000372007.10 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar |