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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRSS55_chr8_10520532_10543819 | 10543481 | T | TTTTCTTT others(26): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG02886.hp1 HG02965.hp1 |
a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0054a0008c0014t0001g0147 | 3 | 480 | 0.0063 | 33 | c.*46 others(44): Show |
PRSS55 | ENSG00000184647.11 | transcript | ENST00000328655.8 | protein_coding | 4663 | chr8 | TogoVar | ||||||
PRTFDC1_chr10_24843614_24957606 | 24880813 | C | CTCTTTCT others(26): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0250 | 1 | 338 | 0.0030 | 33 | c.340 others(50): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar | ||||||
PRTN3_chr19_835999_853175 | 842413 | A | ATTTTTTT others(26): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03195.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0085a0002c0002t0001g0086 | 2 | 415 | 0.0048 | 33 | c.62- others(48): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PRUNE2_chr9_76606376_76911114 | 76774453 | T | TATTTATT others(26): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(6): Show |
a0003a0009 | a0003c0003a0003c0015a0009c0010 | a0003c0003t0004a0003c0003t0006a0003c0003t0011others(2): Show | a0003c0003t0004g0098a0003c0003t0004g0108a0003c0003t0004g0109others(6): Show | 9 | 240 | 0.0375 | 33 | c.756 others(52): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar | ||||||
PRXL2A_chr10_80403551_80442115 | 80406757 | C | CTTATATA others(26): Show |
upstream_gene_variant | MODIFIER | HG01258.hp1 HG01258.hp2 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0054 | a0001c0001t0003g0005a0001c0001t0003g0014a0001c0001t0054g0080 | 3 | 300 | 0.0100 | 33 | c.-18 others(44): Show |
PRXL2A | ENSG00000122378.14 | transcript | ENST00000606162.6 | protein_coding | 1793 | chr10 | TogoVar | ||||||
PRX_chr19_40388768_40418378 | 40417768 | C | CTTCTTTT others(26): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 306 | 0.0033 | 33 | c.-46 others(44): Show |
PRX | ENSG00000105227.16 | transcript | ENST00000324001.8 | protein_coding | 4391 | chr19 | TogoVar | ||||||
PSAT1_chr9_78292125_78335093 | 78326955 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0324 | 1 | 416 | 0.0024 | 33 | c.870 others(50): Show |
PSAT1 | ENSG00000135069.14 | transcript | ENST00000376588.4 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PSEN1_chr14_73131507_73228691 | 73151895 | T | TATATATA others(26): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0148 | 1 | 378 | 0.0027 | 33 | c.87+ others(48): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | TogoVar | ||||||
PSG4_chr19_43187702_43210638 | 43208171 | C | CATTCGCT others(26): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00597.hp2 others(39): Show |
a0002a0014a0018others(1): Show | a0002c0002a0014c0020a0018c0038others(1): Show | a0002c0002t0003a0002c0002t0006a0002c0002t0017others(4): Show | a0002c0002t0003g0001a0002c0002t0003g0021a0002c0002t0003g0162others(22): Show | 42 | 300 | 0.1400 | 33 | c.-26 others(44): Show |
PSG4 | ENSG00000243137.8 | transcript | ENST00000405312.8 | protein_coding | 2534 | chr19 | TogoVar | ||||||
PSG7_chr19_42919132_42942207 | 42933308 | T | TATATATA others(26): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 416 | 0.0024 | 33 | c.430 others(50): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
PSG9_chr19_43248282_43274530 | 43270429 | A | ACGGAGCG others(26): Show |
upstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 212 | 0.0047 | 33 | c.-99 others(42): Show |
PSG9 | ENSG00000183668.18 | transcript | ENST00000270077.8 | protein_coding | 900 | chr19 | TogoVar | ||||||
PSMC2_chr7_103342643_103374395 | 103372658 | T | TCCCCCCC others(26): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 382 | 0.0026 | 33 | c.*46 others(44): Show |
PSMC2 | ENSG00000161057.13 | transcript | ENST00000292644.5 | protein_coding | 3264 | chr7 | TogoVar | ||||||
PSME4_chr2_53859069_53975993 | 53868509 | A | AAAATATA others(26): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01099.hp2 others(29): Show |
a0001a0011 | a0001c0001a0001c0006a0001c0009others(1): Show | a0001c0001t0003a0001c0006t0003a0001c0006t0005others(4): Show | a0001c0001t0003g0204a0001c0006t0003g0025a0001c0006t0003g0026others(29): Show | 32 | 384 | 0.0833 | 33 | c.526 others(50): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 44/46 | chr2 | TogoVar | ||||||
PSME4_chr2_53859069_53975993 | 53868564 | A | AATATATA others(26): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0009 | a0009c0027 | a0009c0027t0003 | a0009c0027t0003g0162 | 1 | 384 | 0.0026 | 33 | c.526 others(50): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 44/46 | chr2 | TogoVar | ||||||
PSMG4_chr6_3253947_3273049 | 3260291 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 412 | 0.0024 | 33 | c.174 others(50): Show |
PSMG4 | ENSG00000180822.12 | transcript | ENST00000438998.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PSPH_chr7_56006064_56056444 | 56011078 | T | TAAACATA others(26): Show |
3_prime_UTR_variant | MODIFIER | HG02630.hp2 HG02818.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0015 | a0001c0001t0010g0270a0001c0001t0010g0272a0001c0001t0015g0271 | 3 | 392 | 0.0077 | 33 | c.*68 others(42): Show |
PSPH | ENSG00000146733.14 | transcript | ENST00000275605.8 | protein_coding | 8/8 | 683 | chr7 | TogoVar | |||||
PTBP2_chr1_96716784_96820049 | 96799294 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0294 | 1 | 364 | 0.0028 | 33 | c.905 others(50): 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(26): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0271 | 1 | 342 | 0.0029 | 33 | c.802 others(50): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 7/13 | chr9 | TogoVar | ||||||
PTBP3_chr9_112213435_112338619 | 112320314 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 342 | 0.0029 | 33 | c.-52 others(52): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 1/13 | chr9 | TogoVar | ||||||
PTCD1_chr7_99411739_99443798 | 99440674 | A | ATATATAT others(26): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 HG02647.hp2 |
a0001 | a0001c0008a0001c0014 | a0001c0008t0007a0001c0014t0035 | a0001c0008t0007g0156a0001c0014t0035g0246 | 2 | 380 | 0.0053 | 33 | c.-20 others(44): Show |
PTCD1 | ENSG00000106246.18 | transcript | ENST00000292478.9 | protein_coding | 1877 | chr7 | TogoVar | ||||||
PTCHD4_chr6_47851673_48116197 | 48098318 | T | TTTCTTCT others(26): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG01256.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0061a0001c0002t0064others(1): Show | a0001c0002t0003g0107a0001c0002t0003g0108a0001c0002t0003g0109others(3): Show | 6 | 182 | 0.0330 | 33 | c.-97 others(54): Show |
PTCHD4 | ENSG00000244694.8 | transcript | ENST00000339488.9 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
PTGIS_chr20_49498874_49573137 | 49536478 | C | CTTTCTTT others(26): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0082 | 1 | 316 | 0.0032 | 33 | c.673 others(50): Show |
PTGIS | ENSG00000124212.6 | transcript | ENST00000244043.5 | protein_coding | 5/9 | chr20 | TogoVar | ||||||
PTH_chr11_13487054_13500997 | 13498664 | A | ATGGGGGG others(26): Show |
upstream_gene_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 424 | 0.0024 | 33 | c.-27 others(44): Show |
PTH | ENSG00000152266.7 | transcript | ENST00000282091.6 | protein_coding | 2668 | chr11 | TogoVar | ||||||
PTK2B_chr8_27320552_27464386 | 27350990 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 328 | 0.0031 | 33 | c.-38 others(52): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PTK2B_chr8_27320552_27464386 | 27350990 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 | 1 | 328 | 0.0031 | 33 | c.-38 others(52): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PTK2B_chr8_27320552_27464386 | 27350990 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01928.hp1 HG03195.hp2 |
a0002 | a0002c0005a0002c0026 | a0002c0005t0001a0002c0026t0001 | a0002c0005t0001g0033a0002c0026t0001g0238 | 2 | 328 | 0.0061 | 33 | c.-38 others(52): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PTK7_chr6_43071314_43166715 | 43096957 | G | GGGCCGTG others(26): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00544.hp1 others(148): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0013others(148): Show | 151 | 272 | 0.5552 | 33 | c.79+ others(50): Show |
PTK7 | ENSG00000112655.16 | transcript | ENST00000230419.9 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PTN_chr7_137222341_137348733 | 137280699 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0092 | 1 | 296 | 0.0034 | 33 | c.-1- others(50): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
PTN_chr7_137222341_137348733 | 137324433 | A | AAAAAAAT others(26): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 296 | 0.0034 | 33 | c.-2+ others(50): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
PTPN12_chr7_77532295_77645069 | 77537203 | A | AGGCGGCG others(26): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 HG01169.hp1 HG01175.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0032a0002c0002t0001g0033a0002c0002t0001g0082 | 3 | 310 | 0.0097 | 33 | c.-34 others(42): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 91 | chr7 | TogoVar | ||||||
PTPN14_chr1_214343700_214556602 | 214402672 | A | AGGGAGGG others(26): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0004 | a0004c0004 | a0004c0004t0070 | a0004c0004t0070g0008 | 1 | 272 | 0.0037 | 33 | c.581 others(48): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | ||||||
PTPN14_chr1_214343700_214556602 | 214520065 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 | 1 | 272 | 0.0037 | 33 | c.-15 others(54): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 1/18 | chr1 | TogoVar | ||||||
PTPN14_chr1_214343700_214556602 | 214520065 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0114 | 1 | 272 | 0.0037 | 33 | c.-15 others(54): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 1/18 | chr1 | TogoVar | ||||||
PTPN1_chr20_50505383_50590241 | 50524569 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0282 | 1 | 336 | 0.0030 | 33 | c.63+ others(50): Show |
PTPN1 | ENSG00000196396.10 | transcript | ENST00000371621.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PTPN1_chr20_50505383_50590241 | 50554380 | A | ATTCTCTC others(26): Show |
intron_variant | MODIFIER | HG02040.hp2 HG03490.hp2 NA18953.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297a0001c0001t0001g0300a0001c0001t0001g0302others(2): Show | 5 | 336 | 0.0149 | 33 | c.64- others(48): Show |
PTPN1 | ENSG00000196396.10 | transcript | ENST00000371621.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0357 | 1 | 370 | 0.0027 | 33 | c.859 others(50): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | ||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 370 | 0.0027 | 33 | c.859 others(50): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | ||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0330 | 1 | 370 | 0.0027 | 33 | c.859 others(50): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | ||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 370 | 0.0027 | 33 | c.859 others(50): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | ||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 370 | 0.0027 | 33 | c.859 others(50): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | ||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0328 | 1 | 370 | 0.0027 | 33 | c.859 others(50): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | ||||||
PTPN2_chr18_12787152_12889237 | 12876296 | A | AAAGAAGA others(26): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01070.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0170a0001c0001t0002g0049a0001c0001t0002g0051others(3): Show | 6 | 370 | 0.0162 | 33 | c.69+ others(48): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 1/8 | chr18 | TogoVar | ||||||
PTPN9_chr15_75458251_75584315 | 75537753 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 326 | 0.0031 | 33 | c.64- others(50): Show |
PTPN9 | ENSG00000169410.11 | transcript | ENST00000618819.5 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 61820603 | G | GTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0008 | 1 | 94 | 0.0106 | 33 | c.190 others(52): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PTPRQ_chr12_80439235_80685273 | 80558122 | T | TCTTTCTT others(26): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0068 | 1 | 178 | 0.0056 | 33 | c.428 others(52): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PTPRS_chr19_5200508_5345812 | 5213361 | G | GACCTGCC others(26): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(82): Show |
a0001a0006a0008others(1): Show | a0001c0001a0001c0007a0001c0015others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(27): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012others(82): Show | 85 | 276 | 0.3080 | 33 | c.461 others(50): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 30/37 | chr19 | TogoVar | ||||||
PTPRS_chr19_5200508_5345812 | 5303954 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01109.hp1 HG01943.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0044others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0121a0001c0001t0002g0094a0001c0001t0008g0103others(5): Show | 8 | 276 | 0.0290 | 33 | c.-94 others(52): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 1/37 | chr19 | TogoVar | ||||||
PTPRS_chr19_5200508_5345812 | 5303954 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02622.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0004a0001c0006a0001c0010others(1): Show | a0001c0004t0005a0001c0006t0020a0001c0010t0020others(1): Show | a0001c0004t0005g0048a0001c0006t0020g0216a0001c0010t0020g0159others(1): Show | 4 | 276 | 0.0145 | 33 | c.-94 others(52): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 1/37 | chr19 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 42086753 | A | AAAAAAAT others(26): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0029 | a0001c0029t0013 | a0001c0029t0013g0057 | 1 | 62 | 0.0161 | 33 | c.384 others(50): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 27/30 | chr20 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 42184541 | C | CTCTTCTT others(26): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0004 | a0002c0004t0024 | a0002c0004t0024g0006 | 1 | 62 | 0.0161 | 33 | c.249 others(54): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 16/30 | chr20 | TogoVar |