regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPP5C_chr19_46342087_46395975 | 46389394 | C | CACACACA others(45): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0360 | 1 | 394 | 0.0025 | 52 | c.135 others(69): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PPP5C_chr19_46342087_46395975 | 46389396 | C | CACACACA others(45): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0358 | 1 | 394 | 0.0025 | 52 | c.135 others(69): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PRAMEF8_chr1_13276304_13290137 | 13286146 | A | AAGGAAGG others(45): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG02015.hp1 HG02080.hp1 others(16): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0002 | a0002c0001t0001g0003a0002c0001t0001g0006a0002c0001t0001g0021others(1): Show | 19 | 332 | 0.0572 | 52 | c.-10 others(63): Show |
PRAMEF8 | ENSG00000182330.11 | transcript | ENST00000357367.7 | protein_coding | 1010 | chr1 | TogoVar | ||||||
PRC1_chr15_90961040_90999535 | 90969763 | C | CATATATA others(45): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0139 | 1 | 376 | 0.0027 | 52 | c.157 others(69): Show |
PRC1 | ENSG00000198901.14 | transcript | ENST00000394249.8 | protein_coding | 12/14 | chr15 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41814395 | T | TTATAAGA others(45): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0169 | 1 | 406 | 0.0025 | 52 | c.239 others(71): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 19/23 | chr21 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41856108 | T | TCCTTCCT others(45): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0096 | 1 | 406 | 0.0025 | 52 | c.285 others(69): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 4/23 | chr21 | TogoVar | ||||||
PREX1_chr20_48619252_48832999 | 48634171 | G | GATGGATG others(45): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0012 | a0012c0038 | a0012c0038t0001 | a0012c0038t0001g0192 | 1 | 268 | 0.0037 | 52 | c.426 others(69): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 33/39 | chr20 | TogoVar | ||||||
PRICKLE3_chrX_49169802_49191373 | 49181565 | G | GTATATGT others(45): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 273 | 0.0037 | 52 | c.313 others(69): Show |
PRICKLE3 | ENSG00000012211.13 | transcript | ENST00000599218.6 | protein_coding | 3/8 | chrX | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151795860 | T | TATATACA others(45): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0030 | a0001c0001t0002g0173a0001c0001t0030g0222 | 2 | 252 | 0.0079 | 52 | c.115 others(69): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151820997 | A | AAAAGTAG others(45): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG01074.hp2 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0053a0001c0001t0001g0134a0001c0001t0001g0167others(19): Show | 22 | 252 | 0.0873 | 52 | c.115 others(71): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151821027 | G | GGACCTCA others(45): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02055.hp1 HG02055.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0040a0001c0001t0002g0058a0001c0001t0002g0059others(3): Show | 6 | 252 | 0.0238 | 52 | c.115 others(71): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151855032 | C | CTCCACAC others(45): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02965.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0079a0001c0001t0002g0107a0001c0001t0010g0132others(1): Show | 4 | 252 | 0.0159 | 52 | c.114 others(71): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23882021 | T | TCTCTTTC others(45): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01071.hp1 HG01168.hp1 others(2): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0003g0105a0001c0001t0004g0106a0001c0001t0005g0104others(2): Show | 5 | 148 | 0.0338 | 52 | c.205 others(71): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 23882021 | T | TCTTTCTC others(45): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0112 | 1 | 148 | 0.0068 | 52 | c.205 others(71): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 23882021 | T | TCTTTCTC others(45): Show |
intron_variant | MODIFIER | HG03710.hp2 NA18969.hp1 NA18970.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0001t0020a0001c0001t0062others(1): Show | a0001c0001t0017g0070a0001c0001t0020g0084a0001c0001t0062g0090others(1): Show | 4 | 148 | 0.0270 | 52 | c.205 others(71): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 24021072 | C | CTCCCTTC others(45): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 148 | 0.0068 | 52 | c.289 others(71): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 24021072 | C | CTCCTTTC others(45): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01123.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0021a0001c0004t0007 | a0001c0001t0021g0006a0001c0004t0007g0041 | 2 | 148 | 0.0135 | 52 | c.289 others(71): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKD1_chr14_29571479_29932847 | 29826161 | C | CACATATA others(45): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG02056.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(1): Show | a0001c0001t0001g0051a0001c0001t0001g0107a0001c0002t0002g0065others(5): Show | 8 | 156 | 0.0513 | 52 | c.265 others(73): Show |
PRKD1 | ENSG00000184304.17 | transcript | ENST00000331968.11 | protein_coding | 1/17 | chr14 | TogoVar | ||||||
PRKG2_chr4_81082375_81220222 | 81111391 | A | AACATGAT others(45): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0240 | 1 | 250 | 0.0040 | 52 | c.177 others(69): Show |
PRKG2 | ENSG00000138669.10 | transcript | ENST00000264399.6 | protein_coding | 14/18 | chr4 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161944134 | G | GATCAGCC others(45): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02602.hp1 HG02647.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0017a0001c0001t0003g0021a0001c0001t0007g0020others(2): Show | 5 | 32 | 0.1563 | 52 | c.734 others(71): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 162011455 | A | ATATATTA others(45): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0015 | 1 | 32 | 0.0313 | 52 | c.619 others(71): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 5/11 | chr6 | TogoVar | ||||||
PRKRIP1_chr7_102391363_102431666 | 102430640 | A | AAGGGAAG others(45): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00544.hp2 others(151): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(111): Show | 154 | 382 | 0.4031 | 52 | c.*55 others(63): Show |
PRKRIP1 | ENSG00000128563.13 | transcript | ENST00000397912.3 | protein_coding | 3975 | chr7 | TogoVar | ||||||
PRORP_chr14_35117552_35282622 | 35172453 | C | CTTCCTTC others(45): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03041.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0004a0001c0002t0003g0214 | 2 | 314 | 0.0064 | 52 | c.116 others(71): Show |
PRORP | ENSG00000100890.16 | transcript | ENST00000534898.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PROS1_chr3_93868051_93978896 | 93927911 | G | GTGTATAT others(45): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 314 | 0.0032 | 52 | c.77- others(65): Show |
PROS1 | ENSG00000184500.16 | transcript | ENST00000394236.9 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
PRPF38B_chr1_108687310_108707928 | 108689608 | T | TAACATCA others(45): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0045 | 1 | 362 | 0.0028 | 52 | c.-29 others(63): Show |
PRPF38B | ENSG00000134186.12 | transcript | ENST00000370025.9 | protein_coding | 2701 | chr1 | TogoVar | ||||||
PRPF8_chr17_1645629_1689867 | 1689864 | C | CGGCTGGC others(45): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG02132.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0002a0001c0006a0001c0008 | a0001c0002t0001a0001c0006t0001a0001c0008t0001 | a0001c0002t0001g0014a0001c0002t0001g0017a0001c0002t0001g0114others(4): Show | 7 | 291 | 0.0241 | 52 | c.-50 others(63): Show |
PRPF8 | ENSG00000174231.18 | transcript | ENST00000304992.11 | protein_coding | 4998 | chr17 | TogoVar | ||||||
PRR35_chr16_555394_570529 | 565736 | A | AGGAGAGC others(45): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(56): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0019others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(11): Show | a0001c0001t0002g0001a0001c0001t0002g0025a0001c0001t0002g0028others(40): Show | 59 | 424 | 0.1392 | 52 | c.*42 others(61): Show |
PRR35 | ENSG00000161992.6 | transcript | ENST00000409413.4 | protein_coding | 208 | chr16 | TogoVar | ||||||
PRR35_chr16_555394_570529 | 565743 | C | CCGTGTGG others(45): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(141): Show |
a0001a0006a0007 | a0001c0001a0001c0003a0001c0023others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(48): Show | 144 | 424 | 0.3396 | 52 | c.*43 others(61): Show |
PRR35 | ENSG00000161992.6 | transcript | ENST00000409413.4 | protein_coding | 215 | chr16 | TogoVar | ||||||
PRR35_chr16_555394_570529 | 565804 | C | CTGGGCTG others(45): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 424 | 0.0024 | 52 | c.*49 others(61): Show |
PRR35 | ENSG00000161992.6 | transcript | ENST00000409413.4 | protein_coding | 276 | chr16 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36350946 | A | ATTTATAT others(45): Show |
intron_variant | MODIFIER | HG01361.hp1 NA19240.hp1 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0003c0008t0001 | a0001c0001t0001g0163a0003c0008t0001g0101 | 2 | 272 | 0.0074 | 52 | c.-12 others(73): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131420451 | C | CTCTTTCT others(45): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0026 | 1 | 216 | 0.0046 | 52 | c.-51 others(69): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRSS41_chr16_2793470_2810304 | 2795127 | T | TATGTGTG others(45): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 426 | 0.0024 | 52 | c.-33 others(63): Show |
PRSS41 | ENSG00000215148.11 | transcript | ENST00000399677.5 | protein_coding | 3342 | chr16 | TogoVar | ||||||
PRTN3_chr19_835999_853175 | 851457 | A | AGGGCCCT others(45): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(107): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0012others(95): Show | 110 | 415 | 0.2651 | 52 | c.*34 others(63): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 3283 | chr19 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18594195 | C | CATATTAT others(45): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0092 | 1 | 228 | 0.0044 | 52 | c.248 others(71): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 12/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18594195 | C | CATATTAT others(45): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01975.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0017others(5): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0003others(6): Show | a0001c0001t0003g0004a0001c0001t0003g0198a0001c0002t0001g0211others(7): Show | 10 | 228 | 0.0439 | 52 | c.248 others(71): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 12/15 | chr8 | TogoVar | ||||||
PSMA3_chr14_58239843_58277004 | 58254340 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02056.hp2 HG02071.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135a0001c0001t0001g0166a0001c0001t0001g0197others(5): Show | 8 | 332 | 0.0241 | 52 | c.228 others(69): Show |
PSMA3 | ENSG00000100567.13 | transcript | ENST00000216455.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSMA3_chr14_58239843_58277004 | 58254340 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02132.hp1 NA18961.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0137a0001c0001t0001g0226others(2): Show | 5 | 332 | 0.0151 | 52 | c.228 others(69): Show |
PSMA3 | ENSG00000100567.13 | transcript | ENST00000216455.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSMA3_chr14_58239843_58277004 | 58254340 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 332 | 0.0030 | 52 | c.228 others(69): Show |
PSMA3 | ENSG00000100567.13 | transcript | ENST00000216455.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSMD1_chr2_231051867_231177827 | 231089594 | G | GATATATA others(45): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0027 | 1 | 364 | 0.0028 | 52 | c.188 others(71): Show |
PSMD1 | ENSG00000173692.14 | transcript | ENST00000308696.11 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PTCD1_chr7_99411739_99443798 | 99440674 | A | ATATATAT others(45): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 HG03486.hp1 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0040a0001c0003t0005g0215 | 2 | 380 | 0.0053 | 52 | c.-20 others(63): Show |
PTCD1 | ENSG00000106246.18 | transcript | ENST00000292478.9 | protein_coding | 1877 | chr7 | TogoVar | ||||||
PTDSS2_chr11_445279_496399 | 475120 | A | ATGGACAT others(45): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0080 | 1 | 346 | 0.0029 | 52 | c.367 others(69): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 3/11 | chr11 | TogoVar | ||||||
PTDSS2_chr11_445279_496399 | 485740 | C | CCGTGCGC others(45): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03471.hp1 HG03486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0156a0001c0001t0004g0157a0001c0001t0004g0159others(2): Show | 5 | 346 | 0.0145 | 52 | c.436 others(69): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 4/11 | chr11 | TogoVar | ||||||
PTP4A3_chr8_141387021_141437454 | 141395567 | T | TTAGGTGC others(45): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(131): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0049others(124): Show | 134 | 323 | 0.4149 | 52 | c.-85 others(71): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PTP4A3_chr8_141387021_141437454 | 141395567 | T | TTAGGTGC others(45): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0179 | 1 | 323 | 0.0031 | 52 | c.-85 others(71): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PTP4A3_chr8_141387021_141437454 | 141395575 | G | GTGGGCCA others(45): Show |
intron_variant | MODIFIER | NA19002.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0280a0001c0001t0006g0281 | 2 | 323 | 0.0062 | 52 | c.-85 others(71): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PTP4A3_chr8_141387021_141437454 | 141395627 | A | ATGGGCCA others(45): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 323 | 0.0031 | 52 | c.-85 others(71): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PTP4A3_chr8_141387021_141437454 | 141395679 | G | GTGGGCCA others(45): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02615.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0018 | a0001c0001t0001g0185a0001c0001t0009g0184a0001c0001t0009g0186others(2): Show | 5 | 323 | 0.0155 | 52 | c.-85 others(71): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PTP4A3_chr8_141387021_141437454 | 141429666 | A | AGGTCCCC others(45): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02300.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(1): Show | a0001c0001t0001g0014a0001c0001t0004g0036a0001c0001t0017g0037others(2): Show | 6 | 323 | 0.0186 | 52 | c.405 others(69): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PTP4A3_chr8_141387021_141437454 | 141429666 | A | AGGTCCCC others(45): Show |
intron_variant | MODIFIER | HG01993.hp2 NA19007.hp1 NA19056.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0228a0001c0001t0002g0231a0001c0001t0003g0128others(1): Show | 4 | 323 | 0.0124 | 52 | c.405 others(69): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PTPN12_chr7_77532295_77645069 | 77533798 | G | GGGGGGGC others(45): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0069 | 1 | 310 | 0.0032 | 52 | c.-37 others(63): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 3496 | chr7 | TogoVar |