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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPP3CA_chr4_101018418_101352526 | 101124675 | AAGAAAGA others(43): Show |
A | intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0176 | 1 | 190 | 0.0053 | -50 | c.260 others(69): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 2/13 | chr4 | TogoVar | |||||||
PPP5C_chr19_46342087_46395975 | 46389362 | AACACACA others(43): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG02071.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0024 others(14): Show |
19 | 77 | 0.2468 | -50 | c.135 others(67): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PPP6R1_chr19_55224779_55264017 | 55257390 | GCGGGTGT others(43): Show |
G | intron_variant | MODIFIER | HG03831.hp2 | a0012 | a0012c0025 | a0012c0025t0003 | a0012c0025t0003g0304 | 1 | 376 | 0.0027 | -50 | c.-7+ others(64): Show |
PPP6R1 | ENSG00000105063.19 | transcript | ENST00000412770.7 | protein_coding | 1/23 | chr19 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50434577 | CCTGGAGG others(43): Show |
C | intron_variant | MODIFIER | NA18983.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0149 | 1 | 338 | 0.0030 | -50 | c.140 others(67): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PRAG1_chr8_8312736_8391439 | 8347848 | ACTCTGTC others(43): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01891.hp2 HG02055.hp2 others(27): Show |
a0006a0007a0008others(5): Show | a0006c0005a0007c0014a0008c0009others(6): Show | a0006c0005t0001a0006c0005t0002a0007c0014t0001others(7): Show | a0006c0005t0001g0207 a0006c0005t0002g0133 a0006c0005t0002g0136 others(26): Show |
30 | 334 | 0.0898 | -50 | c.216 others(69): Show |
PRAG1 | ENSG00000275342.6 | transcript | ENST00000615670.5 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
PRDM12_chr9_130659594_130687983 | 130680622 | CTAAAAAA others(43): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0295 | 1 | 390 | 0.0026 | -50 | c.683 others(65): Show |
PRDM12 | ENSG00000130711.5 | transcript | ENST00000253008.3 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123089102 | TCTCTCTC others(43): Show |
T | upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0211 | 1 | 306 | 0.0033 | -50 | c.-43 others(59): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 138 | chr5 | TogoVar | |||||||
PRDM6_chr5_123084241_123199266 | 123089112 | TCTCTCTC others(43): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 296 | 0.0034 | -50 | c.-42 others(59): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 128 | chr5 | TogoVar | |||||||
PRDX3_chr10_119162720_119183812 | 119181924 | TGGGCGGG others(43): Show |
T | upstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0007 | 1 | 424 | 0.0024 | -50 | c.-31 others(61): Show |
PRDX3 | ENSG00000165672.7 | transcript | ENST00000298510.4 | protein_coding | 3113 | chr10 | TogoVar | |||||||
PREX2_chr8_67947046_68242032 | 68115554 | TATGTTGT others(43): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG03516.hp1 |
a0001 | a0001c0003 | a0001c0003t0010a0001c0003t0021 | a0001c0003t0010g0163 a0001c0003t0021g0130 |
2 | 188 | 0.0106 | -50 | c.314 others(67): Show |
PREX2 | ENSG00000046889.19 | transcript | ENST00000288368.5 | protein_coding | 25/39 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PRIMPOL_chr4_184644738_184699952 | 184653022 | GGGAAAGA others(43): Show |
G | intron_variant | MODIFIER | HG03209.hp2 HG03471.hp2 HG03516.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0004a0002c0006t0001 | a0001c0001t0001g0054 a0001c0001t0001g0072 a0001c0001t0004g0070 others(2): Show |
5 | 326 | 0.0153 | -50 | c.-60 others(65): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151737934 | ACTCCCAC others(43): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0172 | 1 | 85 | 0.0118 | -50 | c.466 others(69): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
PRKCB_chr16_23830983_24225611 | 23865493 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0003 | a0001c0003t0044 | a0001c0003t0044g0131 | 1 | 123 | 0.0081 | -50 | c.205 others(69): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2121698 | AGGGTCAC others(43): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 283 | 0.0035 | -50 | c.335 others(69): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2121716 | AGGGTCAC others(43): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG01358.hp1 HG02004.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0075 others(15): Show |
18 | 283 | 0.0636 | -50 | c.335 others(69): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2121944 | AGGGTCAC others(43): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 276 | 0.0036 | -50 | c.335 others(69): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 51392727 | ACCTCCCG others(43): Show |
A | intron_variant | MODIFIER | HG01099.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0059 a0001c0001t0005g0061 |
2 | 64 | 0.0313 | -50 | c.479 others(69): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 51392881 | AGACGGGG others(43): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00735.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0046 others(15): Show |
18 | 64 | 0.2813 | -50 | c.479 others(69): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 52302228 | ATATACAC others(43): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01192.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0002g0026 a0001c0001t0002g0036 a0001c0001t0002g0041 others(5): Show |
8 | 63 | 0.1270 | -50 | c.*83 others(61): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 3879 | chr10 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161646004 | TGGCGTAT others(43): Show |
T | intron_variant | MODIFIER | NA18522.hp2 | a0006 | a0006c0010 | a0006c0010t0004 | a0006c0010t0004g0013 | 1 | 25 | 0.0400 | -50 | c.872 others(69): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161646037 | ATGCGTGG others(43): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG01884.hp1 HG02897.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0005 a0001c0001t0002g0022 a0001c0001t0003g0029 others(3): Show |
6 | 30 | 0.2000 | -50 | c.872 others(69): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161646145 | CGGAGGAG others(43): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0012 | 1 | 32 | 0.0313 | -50 | c.872 others(69): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161646437 | GTGCGTGG others(43): Show |
G | intron_variant | MODIFIER | HG01361.hp1 HG02602.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0030 others(1): Show |
4 | 32 | 0.1250 | -50 | c.872 others(69): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
PRLR_chr5_35050702_35235487 | 35196035 | TAAATAAA others(43): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00639.hp1 others(159): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0034 others(157): Show |
162 | 163 | 0.9939 | -50 | c.-10 others(71): Show |
PRLR | ENSG00000113494.17 | transcript | ENST00000618457.5 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
PRPF4B_chr6_4016300_4069983 | 4020778 | GGAAATAA others(43): Show |
G | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00673.hp2 others(112): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0061 a0001c0001t0001g0062 others(101): Show |
115 | 366 | 0.3142 | -50 | c.-64 others(59): Show |
PRPF4B | ENSG00000112739.17 | transcript | ENST00000337659.11 | protein_coding | 521 | chr6 | TogoVar | |||||||
PRR36_chr19_7863719_7879390 | 7878014 | GTATATAC others(43): Show |
G | upstream_gene_variant | MODIFIER | HG02723.hp2 HG03130.hp1 NA18906.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0011 | 3 | 384 | 0.0078 | -50 | c.-37 others(61): Show |
PRR36 | ENSG00000183248.12 | transcript | ENST00000618550.5 | protein_coding | 3625 | chr19 | TogoVar | |||||||
PRSS41_chr16_2793470_2810304 | 2802000 | CGGCTGGC others(43): Show |
C | intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 422 | 0.0024 | -50 | c.542 others(67): Show |
PRSS41 | ENSG00000215148.11 | transcript | ENST00000399677.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRX_chr19_40388768_40418378 | 40399855 | CTTTCTTT others(43): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(24): Show |
a0004a0012a0018 | a0004c0004a0012c0013a0018c0036 | a0004c0004t0001a0012c0013t0001a0018c0036t0001 | a0004c0004t0001g0010 a0004c0004t0001g0011 a0004c0004t0001g0022 others(17): Show |
27 | 304 | 0.0888 | -50 | c.185 others(67): Show |
PRX | ENSG00000105227.16 | transcript | ENST00000324001.8 | protein_coding | 5/6 | chr19 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865246 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG03710.hp2 HG03831.hp2 HG04204.hp2 others(3): Show |
a0002 | a0002c0003a0002c0005 | a0002c0003t0001a0002c0003t0009a0002c0003t0040others(2): Show | a0002c0003t0001g0046 a0002c0003t0001g0053 a0002c0003t0009g0017 others(3): Show |
6 | 199 | 0.0302 | -50 | c.163 others(69): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865248 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG01070.hp1 HG01074.hp2 others(9): Show |
a0002 | a0002c0003a0002c0005 | a0002c0003t0001a0002c0003t0004a0002c0003t0018others(5): Show | a0002c0003t0001g0062 a0002c0003t0001g0074 a0002c0003t0001g0089 others(9): Show |
12 | 214 | 0.0561 | -50 | c.163 others(69): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865250 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG02622.hp2 NA18960.hp1 others(1): Show |
a0002 | a0002c0003a0002c0015a0002c0033 | a0002c0003t0009a0002c0003t0010a0002c0015t0001others(1): Show | a0002c0003t0009g0094 a0002c0003t0010g0072 a0002c0015t0001g0011 others(1): Show |
4 | 217 | 0.0184 | -50 | c.163 others(69): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PTBP1_chr19_792452_817312 | 816572 | CCCAGCCA others(43): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02896.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0040 | a0001c0001t0001g0140 a0001c0001t0002g0142 a0001c0001t0040g0141 |
3 | 386 | 0.0078 | -50 | c.*57 others(61): Show |
PTBP1 | ENSG00000011304.22 | transcript | ENST00000356948.11 | protein_coding | 4261 | chr19 | TogoVar | |||||||
PTBP2_chr1_96716784_96820049 | 96762453 | CCCACCTC others(43): Show |
C | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 362 | 0.0028 | -50 | c.116 others(67): Show |
PTBP2 | ENSG00000117569.20 | transcript | ENST00000674951.1 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTBP3_chr9_112213435_112338619 | 112277896 | CATAACAT others(43): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0032 | a0001c0001t0007g0339 a0001c0001t0007g0340 a0001c0001t0032g0324 |
3 | 340 | 0.0088 | -50 | c.35- others(65): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 2/13 | chr9 | TogoVar | |||||||
PTP4A2_chr1_31901421_31943368 | 31908111 | AAAATATA others(43): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 | 2 | 215 | 0.0093 | -50 | c.*69 others(59): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 691 | chr1 | TogoVar | ||||||
PTP4A2_chr1_31901421_31943368 | 31908113 | AATATATA others(43): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 285 | 0.0035 | -50 | c.*68 others(59): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 689 | chr1 | TogoVar | ||||||
PTP4A3_chr8_141387021_141437454 | 141429616 | CGTCCCCG others(43): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 318 | 0.0031 | -50 | c.405 others(67): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTPN12_chr7_77532295_77645069 | 77533708 | ACCCCCCC others(43): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01256.hp1 NA20805.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0301 a0003c0003t0001g0302 a0003c0003t0001g0303 |
3 | 301 | 0.0100 | -50 | c.-38 others(61): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 3586 | chr7 | TogoVar | |||||||
PTPRG_chr3_61556571_62302609 | 61818821 | TTAAAGTG others(43): Show |
T | intron_variant | MODIFIER | HG02896.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0034 a0001c0001t0016g0031 |
2 | 94 | 0.0213 | -50 | c.190 others(69): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
PTPRM_chr18_7562316_8411856 | 8289514 | GTATATAT others(43): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG02809.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0008 a0001c0001t0002g0004 a0001c0001t0005g0026 others(3): Show |
6 | 66 | 0.0909 | -50 | c.275 others(69): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 42634011 | AATATATA others(43): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0002 | a0002c0001 | a0002c0001t0011 | a0002c0001t0011g0019 a0002c0001t0011g0020 |
2 | 59 | 0.0339 | -50 | c.115 others(71): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 7/30 | chr20 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 43175983 | AGAGACCC others(43): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0036 | 1 | 61 | 0.0164 | -50 | c.88+ others(67): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 43176083 | CGAGACCC others(43): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0022 | a0001c0022t0021 | a0001c0022t0021g0045 | 1 | 62 | 0.0161 | -50 | c.88+ others(67): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1731282 | ACTTCCTG others(43): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(129): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0044 others(129): Show |
132 | 320 | 0.4125 | -50 | c.200 others(69): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXYLP1_chr3_141226825_141299924 | 141248803 | GTATATAT others(43): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG02451.hp2 HG02615.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0003t0013 | a0001c0001t0002g0353 a0001c0001t0003g0066 a0001c0003t0013g0267 others(1): Show |
4 | 382 | 0.0105 | -50 | c.-53 others(69): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
QSOX2_chr9_136201333_136250812 | 136236901 | AGCCCGTC others(43): Show |
A | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0159 | 1 | 390 | 0.0026 | -50 | c.328 others(67): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
QSOX2_chr9_136201333_136250812 | 136237524 | ACACCTGG others(43): Show |
A | intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0160 | 1 | 389 | 0.0026 | -50 | c.328 others(67): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
RAB44_chr6_36692826_36738184 | 36734313 | CAGAGAGA others(43): Show |
C | downstream_gene_variant | MODIFIER | HG01943.hp1 HG02135.hp1 NA18949.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0009 | a0001c0002t0003g0010 a0001c0002t0003g0051 a0001c0002t0003g0313 others(2): Show |
5 | 161 | 0.0311 | -50 | c.*22 others(61): Show |
RAB44 | ENSG00000255587.9 | transcript | ENST00000612677.6 | protein_coding | 1130 | chr6 | TogoVar | |||||||
RABGAP1L_chr1_174154520_175000308 | 174573191 | GTGTGTGT others(43): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01261.hp2 HG01516.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0022others(1): Show | a0001c0001t0006g0199 a0001c0001t0008g0100 a0001c0001t0008g0127 others(6): Show |
9 | 272 | 0.0331 | -50 | c.171 others(71): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAD23B_chr9_107278279_107337189 | 107293084 | TTCCTCAC others(43): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0106 |
2 | 344 | 0.0058 | -50 | c.67- others(65): Show |
RAD23B | ENSG00000119318.13 | transcript | ENST00000358015.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |