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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRPF31_chr19_54110754_54136713 | 54133982 | T | TCTCTCCC others(10): Show |
downstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 114 | 0.0088 | 17 | c.*25 others(28): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2270 | chr19 | TogoVar | |||||||
PRPF3_chr1_150316533_150358233 | 150348459 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0344 a0001c0001t0001g0348 |
2 | 326 | 0.0061 | 17 | c.184 others(34): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 14/15 | chr1 | TogoVar | |||||||
PRPF3_chr1_150316533_150358233 | 150348460 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02559.hp2 HG02602.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0116 others(4): Show |
7 | 15 | 0.4667 | 17 | c.184 others(34): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRPF40A_chr2_152646732_152722461 | 152696484 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 a0001c0001t0002g0193 |
2 | 24 | 0.0833 | 17 | c.343 others(34): Show |
PRPF40A | ENSG00000196504.21 | transcript | ENST00000545856.8 | protein_coding | 2/25 | chr2 | TogoVar | |||||||
PRPF4B_chr6_4016300_4069983 | 4029012 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01109.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0024 | a0002c0002t0002g0031 a0002c0002t0002g0181 a0002c0002t0002g0186 others(3): Show |
6 | 60 | 0.1000 | 17 | c.42- others(32): Show |
PRPF4B | ENSG00000112739.17 | transcript | ENST00000337659.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRPF4B_chr6_4016300_4069983 | 4035284 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0138 | 1 | 14 | 0.0714 | 17 | c.123 others(36): Show |
PRPF4B | ENSG00000112739.17 | transcript | ENST00000337659.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRPF6_chr20_63976132_64038100 | 63976764 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 40 | 0.0250 | 17 | c.-44 others(28): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 4367 | chr20 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0002 a0001c0002t0001g0307 a0001c0002t0006g0286 |
3 | 219 | 0.0137 | 17 | c.582 others(32): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02015.hp1 NA18953.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0006a0001c0002t0009others(1): Show | a0001c0002t0001g0273 a0001c0002t0001g0319 a0001c0002t0001g0326 others(3): Show |
6 | 222 | 0.0270 | 17 | c.582 others(32): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG01517.hp2 HG02004.hp2 HG02886.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0006a0002c0003t0003 | a0001c0002t0006g0301 a0002c0003t0003g0009 a0002c0003t0003g0023 others(1): Show |
4 | 220 | 0.0182 | 17 | c.582 others(32): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPS2_chrX_12786412_12829222 | 12826648 | G | GAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG00735.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0034 others(32): Show |
38 | 116 | 0.3276 | 17 | c.*38 others(28): Show |
PRPS2 | ENSG00000101911.13 | transcript | ENST00000380668.10 | protein_coding | 2427 | chrX | TogoVar | |||||||
PRPSAP1_chr17_76304478_76358916 | 76314228 | G | GTATGTAT others(10): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02615.hp2 HG02809.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0012a0001c0001t0016others(1): Show | a0001c0001t0010g0039 a0001c0001t0010g0040 a0001c0001t0010g0042 others(7): Show |
10 | 361 | 0.0277 | 17 | c.782 others(32): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
PRPSAP1_chr17_76304478_76358916 | 76347484 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01952.hp1 HG03491.hp1 HG03492.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 others(1): Show |
4 | 190 | 0.0211 | 17 | c.223 others(34): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 2/9 | chr17 | TogoVar | |||||||
PRPSAP2_chr17_18853131_18936287 | 18858098 | T | TCCCGCCC others(10): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(174): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0001t0002g0031 a0001c0001t0002g0112 a0001c0001t0002g0123 others(173): Show |
177 | 388 | 0.4562 | 17 | c.-29 others(26): Show |
PRPSAP2 | ENSG00000141127.15 | transcript | ENST00000268835.7 | protein_coding | 32 | chr17 | TogoVar | |||||||
PRPSAP2_chr17_18853131_18936287 | 18892727 | G | GTGTGTGT others(10): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0049 | 1 | 236 | 0.0042 | 17 | c.584 others(34): Show |
PRPSAP2 | ENSG00000141127.15 | transcript | ENST00000268835.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRPSAP2_chr17_18853131_18936287 | 18921249 | A | AAAAAGTG others(10): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02055.hp1 HG02257.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0006a0001c0002t0003a0001c0003t0003 | a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0006g0192 others(12): Show |
15 | 390 | 0.0385 | 17 | c.734 others(34): Show |
PRPSAP2 | ENSG00000141127.15 | transcript | ENST00000268835.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRR11_chr17_59150746_59211709 | 59152603 | A | AAATAGTC others(10): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(146): Show |
a0001a0003a0004 | a0001c0001a0003c0007a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0028 a0001c0001t0001g0051 a0001c0001t0001g0056 others(136): Show |
149 | 288 | 0.5174 | 17 | c.-32 others(28): Show |
PRR11 | ENSG00000068489.13 | transcript | ENST00000262293.9 | protein_coding | 3142 | chr17 | TogoVar | |||||||
PRR12_chr19_49586182_49631439 | 49622906 | A | AAACATAT others(10): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0163 | 1 | 292 | 0.0034 | 17 | c.572 others(36): Show |
PRR12 | ENSG00000126464.15 | transcript | ENST00000418929.7 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRR14L_chr22_31676347_31755132 | 31677604 | A | AAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0010 | a0010c0011 | a0010c0011t0004 | a0010c0011t0004g0087 | 1 | 155 | 0.0065 | 17 | c.*79 others(28): Show |
PRR14L | ENSG00000183530.14 | transcript | ENST00000327423.11 | protein_coding | 3742 | chr22 | TogoVar | |||||||
PRR16_chr5_120459300_120692314 | 120575318 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 12 | 0.0833 | 17 | c.160 others(38): Show |
PRR16 | ENSG00000184838.15 | transcript | ENST00000407149.7 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
PRR16_chr5_120459300_120692314 | 120685263 | A | ATGAGGAG others(10): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 170 | 0.0059 | 17 | c.160 others(32): Show |
PRR16 | ENSG00000184838.15 | transcript | ENST00000407149.7 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
PRR20B_chr13_57142488_57155509 | 57148255 | C | CCTTGTTC others(10): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0010 | a0010c0006 | a0010c0006t0002 | a0010c0006t0002g0018 | 1 | 168 | 0.0060 | 17 | c.52+ others(30): Show |
PRR20B | ENSG00000204918.3 | transcript | ENST00000377930.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PRR23A_chr3_138998962_139011268 | 139010701 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG01978.hp1 others(19): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 22 | 83 | 0.2651 | 17 | c.-44 others(28): Show |
PRR23A | ENSG00000206260.4 | transcript | ENST00000383163.4 | protein_coding | 4434 | chr3 | TogoVar | |||||||
PRR23C_chr3_139037102_139049892 | 139044992 | G | GCGGTGGC others(10): Show |
upstream_gene_variant | MODIFIER | NA18939.hp1 NA19063.hp2 |
a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0000 | 2 | 424 | 0.0047 | 17 | c.-38 others(26): Show |
PRR23C | ENSG00000233701.3 | transcript | ENST00000413199.1 | protein_coding | 101 | chr3 | TogoVar | |||||||
PRR35_chr16_555394_570529 | 569850 | C | CCGGGCCT others(10): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 NA18964.hp2 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 3 | 422 | 0.0071 | 17 | c.*45 others(28): Show |
PRR35 | ENSG00000161992.6 | transcript | ENST00000409413.4 | protein_coding | 4322 | chr16 | TogoVar | |||||||
PRR36_chr19_7863719_7879390 | 7878618 | A | ATATATAT others(10): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 1 | 151 | 0.0066 | 17 | c.-43 others(28): Show |
PRR36 | ENSG00000183248.12 | transcript | ENST00000618550.5 | protein_coding | 4229 | chr19 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36420834 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 68 | 0.0147 | 17 | c.294 others(34): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 4/8 | chr11 | TogoVar | |||||||
PRR5_chr22_44697204_44742681 | 44742345 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG01123.hp1 HG01123.hp2 others(7): Show |
a0001a0005 | a0001c0001a0001c0005a0001c0017others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0017t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0061 a0001c0001t0001g0279 others(6): Show |
10 | 21 | 0.4762 | 17 | c.*50 others(28): Show |
PRR5 | ENSG00000186654.21 | transcript | ENST00000336985.11 | protein_coding | 4665 | chr22 | TogoVar | |||||||
PRRC2B_chr9_131389086_131505193 | 131420493 | C | CTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02630.hp1 NA18947.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0005 | a0001c0001t0001a0002c0003t0002a0005c0005t0001others(1): Show | a0001c0001t0001g0061 a0001c0001t0001g0120 a0002c0003t0002g0038 others(2): Show |
5 | 96 | 0.0521 | 17 | c.-51 others(34): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131448543 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG02027.hp1 others(1): Show |
a0001a0007 | a0001c0001a0007c0017 | a0001c0001t0001a0001c0001t0003a0007c0017t0001 | a0001c0001t0001g0060 a0001c0001t0001g0114 a0001c0001t0003g0196 others(1): Show |
4 | 70 | 0.0571 | 17 | c.112 others(34): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131448547 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0119 | 1 | 211 | 0.0047 | 17 | c.112 others(34): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRRC2C_chr1_171480530_171598511 | 171526805 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326 | 1 | 177 | 0.0056 | 17 | c.120 others(34): Show |
PRRC2C | ENSG00000117523.18 | transcript | ENST00000647382.2 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRRX1_chr1_170659131_170744421 | 170669425 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01243.hp2 HG01433.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0095 others(10): Show |
13 | 51 | 0.2549 | 17 | c.241 others(34): Show |
PRRX1 | ENSG00000116132.12 | transcript | ENST00000239461.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRRX2_chr9_129660647_129727674 | 129667160 | T | TCTGAGTG others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(256): Show |
266 | 356 | 0.7472 | 17 | c.259 others(34): Show |
PRRX2 | ENSG00000167157.11 | transcript | ENST00000372469.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRSS12_chr4_118275038_118358003 | 118316837 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0183 | 1 | 115 | 0.0087 | 17 | c.115 others(34): Show |
PRSS12 | ENSG00000164099.3 | transcript | ENST00000296498.3 | protein_coding | 5/12 | chr4 | TogoVar | |||||||
PRSS12_chr4_118275038_118358003 | 118316837 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01433.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0280 a0001c0001t0008g0281 a0001c0001t0008g0282 |
3 | 117 | 0.0256 | 17 | c.115 others(34): Show |
PRSS12 | ENSG00000164099.3 | transcript | ENST00000296498.3 | protein_coding | 5/12 | chr4 | TogoVar | |||||||
PRSS12_chr4_118275038_118358003 | 118316837 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0141 | 1 | 115 | 0.0087 | 17 | c.115 others(34): Show |
PRSS12 | ENSG00000164099.3 | transcript | ENST00000296498.3 | protein_coding | 5/12 | chr4 | TogoVar | |||||||
PRSS16_chr6_27242701_27261620 | 27247241 | T | TGAAAAGA others(10): Show |
upstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 368 | 0.0027 | 17 | c.-49 others(26): Show |
PRSS16 | ENSG00000112812.16 | transcript | ENST00000230582.8 | protein_coding | 459 | chr6 | TogoVar | |||||||
PRSS33_chr16_2778953_2792560 | 2781867 | C | CCTCCTGC others(10): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 HG02965.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0020 |
4 | 384 | 0.0104 | 17 | c.*27 others(28): Show |
PRSS33 | ENSG00000103355.14 | transcript | ENST00000682474.1 | protein_coding | 2085 | chr16 | TogoVar | |||||||
PRSS33_chr16_2778953_2792560 | 2787117 | C | CCTCTCAT others(10): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 185 | 0.0054 | 17 | c.-58 others(32): Show |
PRSS33 | ENSG00000103355.14 | transcript | ENST00000682474.1 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
PRSS54_chr16_58274997_58300025 | 58278243 | A | AAAAGGAA others(10): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG00733.hp2 others(43): Show |
a0003a0004 | a0003c0004a0003c0006a0004c0005 | a0003c0004t0001a0003c0004t0002a0003c0006t0001others(2): Show | a0003c0004t0001g0031 a0003c0004t0001g0046 a0003c0004t0001g0056 others(17): Show |
46 | 410 | 0.1122 | 17 | c.*19 others(28): Show |
PRSS54 | ENSG00000103023.12 | transcript | ENST00000567164.6 | protein_coding | 1753 | chr16 | TogoVar | |||||||
PRSS55_chr8_10520532_10543819 | 10524919 | A | AAGCCGTG others(10): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(157): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0012a0001c0021others(11): Show | a0001c0001t0001a0001c0012t0001a0001c0021t0001others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(58): Show |
160 | 478 | 0.3347 | 17 | c.-66 others(26): Show |
PRSS55 | ENSG00000184647.11 | transcript | ENST00000328655.8 | protein_coding | 612 | chr8 | TogoVar | |||||||
PRSS57_chr19_680546_700452 | 688602 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02698.hp1 HG04115.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0018 a0001c0005t0001g0094 a0001c0005t0001g0095 others(1): Show |
6 | 268 | 0.0224 | 17 | c.379 others(34): Show |
PRSS57 | ENSG00000185198.12 | transcript | ENST00000329267.9 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
PRTFDC1_chr10_24843614_24957606 | 24880815 | C | CTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0098 | 1 | 332 | 0.0030 | 17 | c.340 others(34): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
PRTFDC1_chr10_24843614_24957606 | 24880819 | C | CTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 NA18954.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0002 | a0001c0001t0004a0004c0002t0004 | a0001c0001t0004g0103 a0001c0001t0004g0141 a0001c0001t0004g0150 others(3): Show |
6 | 336 | 0.0179 | 17 | c.340 others(34): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
PRTN3_chr19_835999_853175 | 844220 | C | CCGCCTCT others(10): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02622.hp2 HG02886.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0118 others(1): Show |
4 | 359 | 0.0111 | 17 | c.369 others(32): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRTN3_chr19_835999_853175 | 844267 | G | GCGCGCCT others(10): Show |
intron_variant | MODIFIER | HG03927.hp2 NA19077.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0107 a0002c0002t0001g0160 |
2 | 320 | 0.0063 | 17 | c.369 others(32): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRUNE2_chr9_76606376_76911114 | 76774453 | T | TATTTATG others(10): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0013 | a0013c0017 | a0013c0017t0009 | a0013c0017t0009g0178 | 1 | 118 | 0.0085 | 17 | c.756 others(36): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar | |||||||
PRUNE2_chr9_76606376_76911114 | 76774453 | T | TATTTATT others(10): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01256.hp2 HG01258.hp2 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0025others(3): Show | a0001c0001t0003a0002c0002t0001a0002c0025t0001others(4): Show | a0001c0001t0003g0219 a0001c0001t0003g0220 a0002c0002t0001g0070 others(9): Show |
12 | 129 | 0.0930 | 17 | c.756 others(36): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar | |||||||
PRUNE2_chr9_76606376_76911114 | 76894716 | G | GAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01106.hp1 HG02027.hp1 others(1): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0026 | a0001c0001t0001a0001c0001t0007a0001c0004t0001others(1): Show | a0001c0001t0001g0218 a0001c0001t0007g0217 a0001c0004t0001g0215 others(1): Show |
4 | 199 | 0.0201 | 17 | c.36+ others(34): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 1/18 | chr9 | TogoVar |