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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PI4K2B_chr4_25229033_25284204 | 25249418 | A | AGGGCGGC others(35): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00621.hp1 others(189): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0010others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(18): Show | a0001c0001t0002g0132 a0001c0001t0002g0144 a0001c0001t0003g0001 others(137): Show |
192 | 432 | 0.4444 | 42 | c.269 others(59): Show |
PI4K2B | ENSG00000038210.14 | transcript | ENST00000264864.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(35): Show |
3_prime_UTR_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0116 | a0001c0001t0116g0103 | 1 | 41 | 0.0244 | 42 | c.*50 others(53): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(35): Show |
3_prime_UTR_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 41 | 0.0244 | 42 | c.*50 others(53): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72928006 | C | CACACATA others(35): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03195.hp2 HG03831.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 a0002c0002t0002g0227 a0002c0002t0002g0228 others(3): Show |
6 | 130 | 0.0462 | 42 | c.173 others(61): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88748305 | G | GGACATGG others(35): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(237): Show |
a0001a0002a0003others(66): Show | a0001c0001a0001c0002a0001c0007others(123): Show | a0001c0001t0001a0001c0001t0021a0001c0002t0001others(137): Show | a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0145 others(237): Show |
240 | 280 | 0.8571 | 42 | c.160 others(59): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2/50 | chr16 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10691782 | C | CACACACA others(35): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0044 | a0001c0044t0002 | a0001c0044t0002g0074 | 1 | 4 | 0.2500 | 42 | c.719 others(59): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 47/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10691782 | C | CACACACA others(35): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0082 | a0001c0082t0002 | a0001c0082t0002g0093 | 1 | 4 | 0.2500 | 42 | c.719 others(59): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 47/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10691782 | C | CACACACA others(35): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02280.hp2 |
a0004a0014 | a0004c0073a0014c0051 | a0004c0073t0002a0014c0051t0002 | a0004c0073t0002g0062 a0014c0051t0002g0016 |
2 | 5 | 0.4000 | 42 | c.719 others(59): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 47/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10691782 | C | CACACACA others(35): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02145.hp2 HG03492.hp1 |
a0002a0003 | a0002c0045a0003c0009a0003c0012 | a0002c0045t0001a0003c0009t0001a0003c0012t0001 | a0002c0045t0001g0072 a0003c0009t0001g0052 a0003c0012t0001g0099 |
3 | 6 | 0.5000 | 42 | c.719 others(59): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 47/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10886325 | T | TACATATA others(35): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0053 | 1 | 158 | 0.0063 | 42 | c.330 others(61): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10886343 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0028 | 1 | 121 | 0.0083 | 42 | c.330 others(61): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10886382 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03453.hp1 |
a0001a0017a0026 | a0001c0059a0017c0016a0026c0035 | a0001c0059t0003a0017c0016t0003a0026c0035t0001 | a0001c0059t0003g0111 a0017c0016t0003g0011 a0026c0035t0001g0010 |
3 | 80 | 0.0375 | 42 | c.330 others(61): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | |||||||
PIGW_chr17_36529987_36544303 | 36535212 | G | GCGGCGGA others(35): Show |
5_prime_UTR_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0003 | 1 | 370 | 0.0027 | 42 | c.-37 others(51): Show |
PIGW | ENSG00000277161.2 | transcript | ENST00000614443.2 | protein_coding | 1/2 | 1870 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PIK3AP1_chr10_96588315_96725514 | 96628881 | T | TACACACA others(35): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0072 | 1 | 151 | 0.0066 | 42 | c.137 others(59): Show |
PIK3AP1 | ENSG00000155629.15 | transcript | ENST00000339364.10 | protein_coding | 8/16 | chr10 | TogoVar | |||||||
PIK3R1_chr5_68210756_68306821 | 68262982 | G | GATACATG others(35): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18952.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0032 a0001c0005t0001g0044 |
2 | 227 | 0.0088 | 42 | c.335 others(61): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PIK3R1_chr5_68210756_68306821 | 68263018 | G | GATACATG others(35): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02735.hp1 HG04228.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0003 | a0001c0001t0047a0001c0008t0029a0002c0003t0001 | a0001c0001t0047g0047 a0001c0008t0029g0205 a0002c0003t0001g0015 others(1): Show |
4 | 293 | 0.0137 | 42 | c.335 others(61): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PIK3R3_chr1_46035140_46137629 | 46071730 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02976.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0016a0001c0003t0006 | a0001c0001t0016g0034 a0001c0003t0006g0003 |
2 | 261 | 0.0077 | 42 | c.315 others(59): Show |
PIK3R3 | ENSG00000117461.15 | transcript | ENST00000262741.10 | protein_coding | 3/9 | chr1 | TogoVar | |||||||
PIK3R3_chr1_46035140_46137629 | 46071730 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0002 | 1 | 260 | 0.0038 | 42 | c.315 others(59): Show |
PIK3R3 | ENSG00000117461.15 | transcript | ENST00000262741.10 | protein_coding | 3/9 | chr1 | TogoVar | |||||||
PIK3R3_chr1_46035140_46137629 | 46071730 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | NA18974.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0022 a0001c0001t0005g0024 |
2 | 261 | 0.0077 | 42 | c.315 others(59): Show |
PIK3R3 | ENSG00000117461.15 | transcript | ENST00000262741.10 | protein_coding | 3/9 | chr1 | TogoVar | |||||||
PIMREG_chr17_6439455_6456469 | 6453001 | T | TCTCTCTC others(35): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02818.hp2 HG02976.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0047 others(1): Show |
7 | 310 | 0.0226 | 42 | c.*26 others(53): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 1533 | chr17 | TogoVar | |||||||
PIP4K2A_chr10_22529854_22719578 | 22664228 | T | TATATACA others(35): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0014 | 1 | 57 | 0.0175 | 42 | c.144 others(61): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
PIP5K1B_chr9_68700240_69014176 | 68793082 | T | TGTGTATG others(35): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(35): Show |
38 | 169 | 0.2249 | 42 | c.-85 others(61): Show |
PIP5K1B | ENSG00000107242.20 | transcript | ENST00000265382.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67413431 | T | TTCTTTCT others(35): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0099 | 1 | 216 | 0.0046 | 42 | c.48+ others(59): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67494185 | T | TTCTTTCT others(35): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0024 | 1 | 58 | 0.0172 | 42 | c.49- others(59): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6453001 | T | TCTCTCTC others(35): Show |
3_prime_UTR_variant | MODIFIER | HG02451.hp2 HG02976.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0017 | a0001c0001t0003g0184 a0001c0001t0012g0126 a0001c0001t0012g0128 others(3): Show |
6 | 216 | 0.0278 | 42 | c.*23 others(53): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 20/20 | 2336 | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6491836 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0047 | a0001c0002t0047g0023 | 1 | 57 | 0.0175 | 42 | c.275 others(59): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4/19 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6505195 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0033 | 1 | 73 | 0.0137 | 42 | c.227 others(59): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 3/19 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6560943 | C | CCTCCTCC others(35): Show |
upstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0102 | 1 | 215 | 0.0047 | 42 | c.-45 others(53): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4389 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6561199 | C | CCTCCTCT others(35): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0107 | 1 | 87 | 0.0115 | 42 | c.-47 others(53): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4645 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6561497 | C | CTCCTTCT others(35): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0174 | 1 | 216 | 0.0046 | 42 | c.-50 others(53): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4943 | chr17 | TogoVar | |||||||
PIWIL1_chr12_130332887_130377637 | 130338277 | G | GGATGCAG others(35): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0236 | 1 | 247 | 0.0040 | 42 | c.-13 others(57): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIWIL1_chr12_130332887_130377637 | 130338300 | T | TCGAGGTC others(35): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0016 | a0001c0016t0013 | a0001c0016t0013g0099 | 1 | 353 | 0.0028 | 42 | c.-13 others(57): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIWIL1_chr12_130332887_130377637 | 130338403 | G | GGATGCAG others(35): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG01891.hp2 others(19): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(6): Show | a0001c0001t0001g0103 a0001c0001t0005g0025 a0001c0001t0005g0026 others(17): Show |
22 | 354 | 0.0621 | 42 | c.-13 others(57): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIWIL1_chr12_130332887_130377637 | 130338453 | G | GAGCCGGG others(35): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0036 | 2 | 419 | 0.0048 | 42 | c.-13 others(57): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIWIL1_chr12_130332887_130377637 | 130338483 | T | TGGGAGAT others(35): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0079 a0001c0001t0010g0080 |
2 | 353 | 0.0057 | 42 | c.-13 others(57): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIWIL1_chr12_130332887_130377637 | 130338537 | A | AAGCCGGG others(35): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01257.hp1 HG02004.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0017 a0001c0001t0008g0220 |
4 | 287 | 0.0139 | 42 | c.-13 others(57): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIWIL1_chr12_130332887_130377637 | 130338594 | G | GCGAGGTC others(35): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0024 | 2 | 424 | 0.0047 | 42 | c.-13 others(57): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIWIL1_chr12_130332887_130377637 | 130338695 | G | GGGGATGC others(35): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0308 | 1 | 424 | 0.0024 | 42 | c.-13 others(57): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIWIL3_chr22_24714034_24779720 | 24757637 | C | CACATATA others(35): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0347 | 1 | 220 | 0.0045 | 42 | c.355 others(57): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | |||||||
PIWIL3_chr22_24714034_24779720 | 24757663 | C | CACACACA others(35): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG03579.hp1 |
a0001a0022 | a0001c0001a0022c0030 | a0001c0001t0001a0022c0030t0001 | a0001c0001t0001g0242 a0001c0001t0001g0250 a0022c0030t0001g0325 |
3 | 384 | 0.0078 | 42 | c.355 others(57): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2098799 | A | AGGCTCTG others(35): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0008 | a0008c0021 | a0008c0021t0005 | a0008c0021t0005g0090 | 1 | 214 | 0.0047 | 42 | c.100 others(61): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 30/45 | chr16 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51981323 | C | CTCTCCCT others(35): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02896.hp1 HG02965.hp2 others(4): Show |
a0007a0009a0028others(3): Show | a0007c0018a0007c0053a0009c0056others(4): Show | a0007c0018t0021a0007c0053t0017a0009c0056t0001others(4): Show | a0007c0018t0021g0074 a0007c0053t0017g0069 a0009c0056t0001g0073 others(4): Show |
7 | 127 | 0.0551 | 42 | c.575 others(63): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51981324 | T | TCTCCCCC others(35): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0132 | 1 | 130 | 0.0077 | 42 | c.575 others(63): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51981329 | C | CTCTCCCT others(35): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0009 | a0009c0087 | a0009c0087t0001 | a0009c0087t0001g0111 | 1 | 100 | 0.0100 | 42 | c.575 others(63): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51981329 | C | CTCTCCCT others(35): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0091 | a0002c0091t0007 | a0002c0091t0007g0133 | 1 | 100 | 0.0100 | 42 | c.575 others(63): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51981335 | C | CTCTCCCT others(35): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0106 | 1 | 124 | 0.0081 | 42 | c.575 others(63): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKP4_chr2_158451952_158686429 | 158566479 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 269 | 0.0037 | 42 | c.133 others(61): Show |
PKP4 | ENSG00000144283.23 | transcript | ENST00000389759.8 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLA2G12B_chr10_72929762_72959806 | 72956359 | G | GGCCAGCT others(35): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 324 | 0.0031 | 42 | c.-16 others(53): Show |
PLA2G12B | ENSG00000138308.6 | transcript | ENST00000373032.4 | protein_coding | 1554 | chr10 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48105945 | C | CCTTTCTT others(35): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 120 | 0.0083 | 42 | c.9-5 others(53): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | |||||||
PLAAT1_chr3_193236222_193275855 | 193265671 | G | GGGAAAAT others(35): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18959.hp2 NA19005.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0141 a0001c0001t0001g0142 |
5 | 396 | 0.0126 | 42 | c.405 others(59): Show |
PLAAT1 | ENSG00000127252.7 | transcript | ENST00000264735.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |