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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PSD4_chr2_113168971_113214391 | 113189351 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0019 | a0002c0019t0046 | a0002c0019t0046g0249 | 1 | 380 | 0.0026 | 28 | c.162 others(47): Show |
PSD4 | ENSG00000125637.16 | transcript | ENST00000245796.11 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73151878 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0002 | a0002c0006 | a0002c0006t0006 | a0002c0006t0006g0274 | 1 | 378 | 0.0027 | 28 | c.87+ others(43): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSG5_chr19_43162743_43191536 | 43182705 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02027.hp2 NA18949.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0124 a0001c0001t0001g0125 |
4 | 430 | 0.0093 | 28 | c.430 others(45): Show |
PSG5 | ENSG00000204941.14 | transcript | ENST00000342951.11 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 416 | 0.0024 | 28 | c.430 others(45): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSIP1_chr9_15459066_15515970 | 15501840 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG01891.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0241 a0001c0001t0007g0242 |
2 | 300 | 0.0067 | 28 | c.149 others(45): Show |
PSIP1 | ENSG00000164985.15 | transcript | ENST00000380733.9 | protein_coding | 3/15 | chr9 | TogoVar | |||||||
PSIP1_chr9_15459066_15515970 | 15501866 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02572.hp2 HG04204.hp1 NA18971.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0262 a0001c0001t0003g0271 a0001c0001t0003g0272 others(2): Show |
5 | 300 | 0.0167 | 28 | c.149 others(45): Show |
PSIP1 | ENSG00000164985.15 | transcript | ENST00000380733.9 | protein_coding | 3/15 | chr9 | TogoVar | |||||||
PSMA3_chr14_58239843_58277004 | 58254333 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 332 | 0.0030 | 28 | c.228 others(45): 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(21): Show |
intron_variant | MODIFIER | HG02523.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 a0001c0001t0001g0249 |
2 | 332 | 0.0060 | 28 | c.228 others(45): Show |
PSMA3 | ENSG00000100567.13 | transcript | ENST00000216455.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSMC2_chr7_103342643_103374395 | 103364981 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01175.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0060 a0001c0001t0003g0061 |
2 | 382 | 0.0052 | 28 | c.756 others(43): Show |
PSMC2 | ENSG00000161057.13 | transcript | ENST00000292644.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PSMC2_chr7_103342643_103374395 | 103364981 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0095 | 1 | 382 | 0.0026 | 28 | c.756 others(43): Show |
PSMC2 | ENSG00000161057.13 | transcript | ENST00000292644.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PSMD13_chr11_231976_257984 | 236370 | C | CCGGCGCC others(21): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 NA18747.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 a0001c0001t0002g0254 a0001c0001t0002g0255 |
3 | 450 | 0.0067 | 28 | c.-68 others(37): Show |
PSMD13 | ENSG00000185627.19 | transcript | ENST00000532097.6 | protein_coding | 605 | chr11 | TogoVar | |||||||
PSMD14_chr2_161303425_161416717 | 161327946 | C | CTGTGTGT others(21): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 268 | 0.0037 | 28 | c.48+ others(43): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSMD14_chr2_161303425_161416717 | 161357076 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01952.hp1 HG02257.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0198 a0001c0001t0001g0207 others(16): Show |
20 | 268 | 0.0746 | 28 | c.49- others(45): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSMD14_chr2_161303425_161416717 | 161389889 | G | GTTGTTGT others(21): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18975.hp1 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0205 |
3 | 268 | 0.0112 | 28 | c.571 others(45): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSMD14_chr2_161303425_161416717 | 161389889 | G | GTTGTTTT others(21): Show |
intron_variant | MODIFIER | HG00673.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 a0001c0001t0002g0098 |
2 | 268 | 0.0075 | 28 | c.571 others(45): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSMD3_chr17_39975807_40002959 | 39992024 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 418 | 0.0024 | 28 | c.981 others(45): Show |
PSMD3 | ENSG00000108344.15 | transcript | ENST00000264639.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PSMD4_chr1_151249734_151272479 | 151251260 | C | CAAAAAAA others(21): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0092 a0001c0001t0001g0136 |
3 | 420 | 0.0071 | 28 | c.-35 others(39): Show |
PSMD4 | ENSG00000159352.16 | transcript | ENST00000368884.8 | protein_coding | 3473 | chr1 | TogoVar | |||||||
PSMD8_chr19_38369571_38388824 | 38380723 | T | TGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 424 | 0.0024 | 28 | c.703 others(43): Show |
PSMD8 | ENSG00000099341.13 | transcript | ENST00000215071.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PSMD8_chr19_38369571_38388824 | 38380723 | T | TGTGTGTG others(21): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 424 | 0.0024 | 28 | c.703 others(43): Show |
PSMD8 | ENSG00000099341.13 | transcript | ENST00000215071.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PSME4_chr2_53859069_53975993 | 53933375 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0248 | 1 | 384 | 0.0026 | 28 | c.958 others(43): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 8/46 | chr2 | TogoVar | |||||||
PSMF1_chr20_1113602_1177246 | 1133555 | G | GTGTGTAT others(21): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02258.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0005 | a0001c0003t0001g0161 a0001c0003t0005g0179 |
2 | 326 | 0.0061 | 28 | c.366 others(45): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PSMF1_chr20_1113602_1177246 | 1133569 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03516.hp2 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0011a0004c0008t0033 | a0001c0001t0011g0154 a0004c0008t0033g0050 |
2 | 326 | 0.0061 | 28 | c.366 others(45): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PSMF1_chr20_1113602_1177246 | 1133569 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02155.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0147 others(1): Show |
5 | 326 | 0.0153 | 28 | c.366 others(45): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PSMF1_chr20_1113602_1177246 | 1133569 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02300.hp2 HG03831.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0066 a0001c0001t0017g0067 a0001c0001t0017g0105 |
3 | 326 | 0.0092 | 28 | c.366 others(45): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PSMG4_chr6_3253947_3273049 | 3260291 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 412 | 0.0024 | 28 | c.174 others(45): Show |
PSMG4 | ENSG00000180822.12 | transcript | ENST00000438998.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PSMG4_chr6_3253947_3273049 | 3260291 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18973.hp2 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 3 | 412 | 0.0073 | 28 | c.174 others(45): Show |
PSMG4 | ENSG00000180822.12 | transcript | ENST00000438998.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PSMG4_chr6_3253947_3273049 | 3260291 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 412 | 0.0024 | 28 | c.174 others(45): Show |
PSMG4 | ENSG00000180822.12 | transcript | ENST00000438998.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PTBP2_chr1_96716784_96820049 | 96799294 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG00280.hp1 HG03516.hp1 NA18955.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008 | a0001c0002t0001g0276 a0001c0002t0001g0325 a0001c0002t0008g0321 |
3 | 364 | 0.0082 | 28 | c.905 others(45): Show |
PTBP2 | ENSG00000117569.20 | transcript | ENST00000674951.1 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTBP3_chr9_112213435_112338619 | 112244289 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00741.hp2 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 a0001c0001t0002g0298 |
2 | 342 | 0.0059 | 28 | c.802 others(45): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 7/13 | chr9 | TogoVar | |||||||
PTBP3_chr9_112213435_112338619 | 112320291 | A | AAAAAATA others(21): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0278 | 1 | 342 | 0.0029 | 28 | c.-52 others(47): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 1/13 | chr9 | TogoVar | |||||||
PTBP3_chr9_112213435_112338619 | 112320291 | A | AAAATATA others(21): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0070 | 1 | 342 | 0.0029 | 28 | c.-52 others(47): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 1/13 | chr9 | TogoVar | |||||||
PTCD1_chr7_99411739_99443798 | 99440655 | C | CATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 HG02970.hp2 HG06807.hp2 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0011a0001c0017t0016 | a0001c0001t0011g0020 a0001c0017t0016g0245 |
3 | 380 | 0.0079 | 28 | c.-19 others(39): Show |
PTCD1 | ENSG00000106246.18 | transcript | ENST00000292478.9 | protein_coding | 1858 | chr7 | TogoVar | |||||||
PTCD1_chr7_99411739_99443798 | 99440674 | A | ATATATAT others(21): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0008 | a0001c0008t0007 | a0001c0008t0007g0157 | 1 | 380 | 0.0026 | 28 | c.-20 others(39): Show |
PTCD1 | ENSG00000106246.18 | transcript | ENST00000292478.9 | protein_coding | 1877 | chr7 | TogoVar | |||||||
PTCD1_chr7_99411739_99443798 | 99440674 | A | ATATATAT others(21): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0012 | a0001c0012t0007 | a0001c0012t0007g0154 | 1 | 380 | 0.0026 | 28 | c.-20 others(39): Show |
PTCD1 | ENSG00000106246.18 | transcript | ENST00000292478.9 | protein_coding | 1877 | chr7 | TogoVar | |||||||
PTCH2_chr1_44816938_44848253 | 44830587 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03139.hp2 |
a0001a0007 | a0001c0004a0007c0016 | a0001c0004t0001a0007c0016t0001 | a0001c0004t0001g0147 a0007c0016t0001g0146 |
2 | 370 | 0.0054 | 28 | c.813 others(43): Show |
PTCH2 | ENSG00000117425.14 | transcript | ENST00000372192.4 | protein_coding | 6/21 | chr1 | TogoVar | |||||||
PTCHD1_chrX_23329849_23409374 | 23394409 | G | GACACACA others(21): Show |
3_prime_UTR_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0181 | 1 | 297 | 0.0034 | 28 | c.*23 others(37): Show |
PTCHD1 | ENSG00000165186.12 | transcript | ENST00000379361.5 | protein_coding | 3/3 | 267 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PTCHD4_chr6_47851673_48116197 | 47882741 | G | GAGATATA others(21): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(13): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(10): Show | a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0031 others(13): Show |
16 | 182 | 0.0879 | 28 | c.899 others(45): Show |
PTCHD4 | ENSG00000244694.8 | transcript | ENST00000339488.9 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
PTCHD4_chr6_47851673_48116197 | 47882741 | G | GATATATA others(21): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01358.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0089a0001c0001t0108a0001c0001t0117others(1): Show | a0001c0001t0089g0131 a0001c0001t0108g0081 a0001c0001t0117g0054 others(1): Show |
4 | 182 | 0.0220 | 28 | c.899 others(45): Show |
PTCHD4 | ENSG00000244694.8 | transcript | ENST00000339488.9 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
PTGES3_chr12_56658349_56693284 | 56674825 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 a0001c0001t0001g0148 |
2 | 372 | 0.0054 | 28 | c.3-1 others(41): Show |
PTGES3 | ENSG00000110958.16 | transcript | ENST00000262033.11 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
PTGFR_chr1_78485974_78545701 | 78532390 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 386 | 0.0026 | 28 | c.799 others(45): Show |
PTGFR | ENSG00000122420.10 | transcript | ENST00000370757.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTGIR_chr19_46615468_46630089 | 46619547 | A | AAGAAAGA others(21): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0031 | 1 | 420 | 0.0024 | 28 | c.*17 others(39): Show |
PTGIR | ENSG00000160013.9 | transcript | ENST00000291294.7 | protein_coding | 920 | chr19 | TogoVar | |||||||
PTGR2_chr14_73846831_73890726 | 73876483 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01891.hp2 HG02258.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0051 others(12): Show |
15 | 420 | 0.0357 | 28 | c.349 others(43): Show |
PTGR2 | ENSG00000140043.12 | transcript | ENST00000555661.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PTH2R_chr2_208401792_208499506 | 208408722 | A | AAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03017.hp2 HG03490.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0003a0005c0013t0003 | a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 others(2): Show |
5 | 294 | 0.0170 | 28 | c.75+ others(43): Show |
PTH2R | ENSG00000144407.10 | transcript | ENST00000272847.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTK2B_chr8_27320552_27464386 | 27405035 | C | CCTCTCTC others(21): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0181 | 1 | 328 | 0.0031 | 28 | c.204 others(45): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTK2B_chr8_27320552_27464386 | 27414606 | C | CTCTCTGT others(21): Show |
intron_variant | MODIFIER | HG00738.hp1 NA19030.hp2 NA21309.hp1 |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0006 a0002c0006t0001g0010 a0002c0006t0001g0282 |
3 | 328 | 0.0092 | 28 | c.205 others(45): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTK2B_chr8_27320552_27464386 | 27414606 | C | CTCTGTGT others(21): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02630.hp2 HG02647.hp1 others(6): Show |
a0001a0009 | a0001c0007a0001c0008a0001c0010others(1): Show | a0001c0007t0003a0001c0008t0003a0001c0010t0003others(1): Show | a0001c0007t0003g0303 a0001c0008t0003g0114 a0001c0010t0003g0230 others(6): Show |
9 | 328 | 0.0274 | 28 | c.205 others(45): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTK2B_chr8_27320552_27464386 | 27414608 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(142): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0009others(15): Show | a0001c0001t0003a0001c0001t0005a0001c0007t0003others(16): Show | a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 others(140): Show |
145 | 328 | 0.4421 | 28 | c.205 others(45): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTK2B_chr8_27320552_27464386 | 27414608 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0296 | 1 | 328 | 0.0031 | 28 | c.205 others(45): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTK2_chr8_140652900_141006282 | 140676765 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0003 a0001c0001t0007g0005 |
2 | 290 | 0.0069 | 28 | c.268 others(47): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 30/35 | chr8 | TogoVar | |||||||
PTK2_chr8_140652900_141006282 | 140927973 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0102 | 1 | 290 | 0.0035 | 28 | c.-12 others(47): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 1/35 | chr8 | TogoVar |