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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLXNB2_chr22_50269979_50312646 | 50285743 | A | ACCCCTCC others(36): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0010 | a0010c0069 | a0010c0069t0001 | a0010c0069t0001g0236 | 1 | 220 | 0.0045 | 43 | c.208 others(58): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 11/36 | chr22 | TogoVar | |||||||
PMM1_chr22_41571900_41594840 | 41594378 | T | TGGGGGGG others(36): Show |
upstream_gene_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 296 | 0.0034 | 43 | c.-45 others(54): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4539 | chr22 | TogoVar | |||||||
PMM1_chr22_41571900_41594840 | 41594378 | T | TGGGGGGG others(36): Show |
upstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 296 | 0.0034 | 43 | c.-45 others(54): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4539 | chr22 | TogoVar | |||||||
PNMA8C_chr19_46419697_46433936 | 46425080 | T | TTGTGCTT others(36): Show |
3_prime_UTR_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0000 | 1 | 440 | 0.0023 | 43 | c.*26 others(54): Show |
PNMA8C | ENSG00000277531.3 | transcript | ENST00000617053.3 | protein_coding | 1/1 | 2664 | chr19 | TogoVar | ||||||
PODXL_chr7_131495271_131561628 | 131558478 | A | ATATATAT others(36): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0012 | a0012c0042 | a0012c0042t0001 | a0012c0042t0001g0028 | 1 | 383 | 0.0026 | 43 | c.-21 others(54): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1851 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131558478 | A | ATATATAT others(36): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0008 | a0008c0041 | a0008c0041t0002 | a0008c0041t0002g0031 | 1 | 383 | 0.0026 | 43 | c.-21 others(54): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1851 | chr7 | TogoVar | |||||||
POLA1_chrX_24688918_25001986 | 24871823 | G | GACTAATT others(36): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 195 | 0.0051 | 43 | c.404 others(64): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLDIP2_chr17_28341633_28362527 | 28353520 | C | CAAAAAAA others(36): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02280.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 a0001c0001t0002g0170 |
3 | 74 | 0.0405 | 43 | c.438 others(58): Show |
POLDIP2 | ENSG00000004142.12 | transcript | ENST00000540200.6 | protein_coding | 4/10 | chr17 | TogoVar | |||||||
POLR3C_chr1_145819200_145849402 | 145842809 | A | AGATAGAT others(36): Show |
3_prime_UTR_variant | MODIFIER | HG03225.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0031 | a0001c0001t0026g0052 a0001c0001t0031g0058 |
2 | 348 | 0.0057 | 43 | c.*39 others(52): Show |
POLR3C | ENSG00000186141.10 | transcript | ENST00000334163.4 | protein_coding | 15/15 | 398 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
POLRMT_chr19_612221_638537 | 620966 | G | GGGGCGCG others(36): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0300 | 1 | 364 | 0.0027 | 43 | c.264 others(58): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 10/20 | chr19 | TogoVar | |||||||
PON3_chr7_95354872_95401375 | 95388080 | C | CTTCATGA others(36): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02155.hp1 HG02280.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0062 a0001c0002t0003g0009 a0001c0002t0003g0053 others(6): Show |
15 | 370 | 0.0405 | 43 | c.201 others(60): Show |
PON3 | ENSG00000105852.11 | transcript | ENST00000265627.10 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75989104 | G | GGGTGGAG others(36): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG01081.hp1 HG03834.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 a0001c0002t0001g0067 a0001c0002t0001g0117 others(1): Show |
4 | 255 | 0.0157 | 43 | c.*26 others(54): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2250 | chr7 | TogoVar | |||||||
POTEB3_chr15_21400401_21445499 | 21413522 | A | ATATATAT others(36): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18943.hp2 |
a0004a0009 | a0004c0008a0009c0009 | a0004c0008t0027a0009c0009t0028 | a0004c0008t0027g0032 a0009c0009t0028g0038 |
2 | 43 | 0.0465 | 43 | c.141 others(62): Show |
POTEB3 | ENSG00000278522.5 | transcript | ENST00000611217.5 | protein_coding | 9/10 | chr15 | TogoVar | |||||||
POTEB_chr15_21841329_21882735 | 21850877 | A | ATTAAAGA others(36): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0004 | a0004c0003 | a0004c0003t0004 | a0004c0003t0004g0044 | 1 | 12 | 0.0833 | 43 | c.129 others(62): Show |
POTEB | ENSG00000233917.9 | transcript | ENST00000439682.2 | protein_coding | 9/10 | chr15 | TogoVar | |||||||
PPEF2_chr4_75854867_75907452 | 75877039 | A | AAAGAAAG others(36): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 a0001c0001t0001g0171 |
2 | 264 | 0.0076 | 43 | c.934 others(58): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 10/16 | chr4 | TogoVar | |||||||
PPFIA1_chr11_70265690_70389396 | 70277060 | A | ATATATTA others(36): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0037 | 1 | 9 | 0.1111 | 43 | c.264 others(60): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPL_chr16_4877507_4942148 | 4920371 | G | GAAAGAAA others(36): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(40): Show |
a0001a0002a0005others(7): Show | a0001c0001a0001c0022a0002c0002others(10): Show | a0001c0001t0001a0001c0022t0001a0002c0002t0002others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0018 others(39): Show |
43 | 210 | 0.2048 | 43 | c.63- others(58): Show |
PPL | ENSG00000118898.16 | transcript | ENST00000345988.7 | protein_coding | 1/21 | chr16 | TogoVar | |||||||
PPP1R16B_chr20_38800697_38928024 | 38855982 | A | AGAGAGAG others(36): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18969.hp2 NA18982.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0002t0002g0106 |
3 | 75 | 0.0400 | 43 | c.250 others(62): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 2/10 | chr20 | TogoVar | |||||||
PPP2R3B_chrX_328933_391907 | 329178 | T | TCCCCCCT others(36): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 NA19088.hp1 |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0001a0002c0006t0007 | a0001c0002t0001g0010 a0002c0006t0007g0018 |
2 | 23 | 0.0870 | 43 | c.*51 others(54): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 4754 | chrX | TogoVar | |||||||
PPP2R5C_chr14_101756709_101932977 | 101782374 | C | CCCTCCCT others(36): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03516.hp2 HG06807.hp1 |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0013 | a0001c0003t0005g0018 a0001c0003t0005g0020 a0001c0003t0013g0019 |
3 | 131 | 0.0229 | 43 | c.94- others(58): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PPP2R5C_chr14_101756709_101932977 | 101924445 | C | CTTTTTTT others(36): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 21 | 0.0476 | 43 | c.160 others(60): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PPP3CA_chr4_101018418_101352526 | 101106466 | A | AAAGAAAG others(36): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 166 | 0.0060 | 43 | c.384 others(60): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 3/13 | chr4 | TogoVar | |||||||
PPP4R3A_chr14_91452508_91515310 | 91468667 | C | CAAAAAAA others(36): Show |
intron_variant | MODIFIER | HG01346.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 a0001c0001t0001g0261 |
2 | 22 | 0.0909 | 43 | c.166 others(62): Show |
PPP4R3A | ENSG00000100796.18 | transcript | ENST00000554943.6 | protein_coding | 10/14 | chr14 | TogoVar | |||||||
PRAMEF13_chr1_13191188_13206409 | 13203476 | A | AGAAGAAA others(36): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0011 | a0011c0017 | a0011c0017t0003 | a0011c0017t0003g0014 | 1 | 52 | 0.0192 | 43 | c.-21 others(54): Show |
PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 2068 | chr1 | TogoVar | |||||||
PRCP_chr11_82817936_82905430 | 82841053 | A | AATATATA others(36): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02135.hp2 HG03225.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0030 a0001c0001t0002g0035 others(7): Show |
10 | 206 | 0.0485 | 43 | c.922 others(60): Show |
PRCP | ENSG00000137509.12 | transcript | ENST00000313010.8 | protein_coding | 6/8 | chr11 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41865066 | C | CCATGCCT others(36): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0024 | a0002c0024t0005 | a0002c0024t0005g0183 | 1 | 404 | 0.0025 | 43 | c.-9- others(58): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 1/23 | chr21 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3269792 | C | CGGAGGAG others(36): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01069.hp1 others(48): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0020others(39): Show | a0001c0001t0001g0150 a0001c0001t0001g0201 a0001c0001t0012g0041 others(48): Show |
51 | 208 | 0.2452 | 43 | c.438 others(62): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | chr1 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3269804 | G | GTTGGGAG others(36): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0005 | a0005c0024 | a0005c0024t0007 | a0005c0024t0007g0173 | 1 | 208 | 0.0048 | 43 | c.438 others(62): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3297923 | A | ACAGGGGC others(36): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02717.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0028a0001c0004t0073a0001c0006t0013others(2): Show | a0001c0001t0028g0111 a0001c0001t0028g0126 a0001c0004t0073g0143 others(3): Show |
6 | 208 | 0.0288 | 43 | c.438 others(62): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23902780 | T | TCCTTCCT others(36): Show |
intron_variant | MODIFIER | HG02895.hp1 HG04199.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0042a0001c0003t0010 | a0001c0001t0042g0001 a0001c0003t0010g0103 |
2 | 18 | 0.1111 | 43 | c.205 others(62): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122168 | C | CATGGTGG others(36): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0276 | 1 | 196 | 0.0051 | 43 | c.335 others(62): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
PRMT8_chr12_3486203_3598973 | 3496214 | A | ATATATAT others(36): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 119 | 0.0084 | 43 | c.75+ others(58): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161972 | A | ACATCCTC others(36): Show |
intron_variant | MODIFIER | HG02818.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 a0001c0001t0001g0137 |
2 | 296 | 0.0068 | 43 | c.260 others(60): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54134108 | C | CCCCTCTC others(36): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0037 |
2 | 162 | 0.0123 | 43 | c.*26 others(54): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2396 | chr19 | TogoVar | |||||||
PRR14L_chr22_31676347_31755132 | 31677604 | A | AAAAAAAA others(36): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0076 | 1 | 155 | 0.0065 | 43 | c.*79 others(54): Show |
PRR14L | ENSG00000183530.14 | transcript | ENST00000327423.11 | protein_coding | 3742 | chr22 | TogoVar | |||||||
PRRC2B_chr9_131389086_131505193 | 131420493 | C | CTTTCTTT others(36): Show |
intron_variant | MODIFIER | NA19067.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0123 |
2 | 93 | 0.0215 | 43 | c.-51 others(60): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRRC2C_chr1_171480530_171598511 | 171518495 | T | TTTTTTTT others(36): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0176 | 1 | 245 | 0.0041 | 43 | c.750 others(58): Show |
PRRC2C | ENSG00000117523.18 | transcript | ENST00000647382.2 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRRX2_chr9_129660647_129727674 | 129684532 | A | ACACACAC others(36): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 342 | 0.0029 | 43 | c.259 others(62): Show |
PRRX2 | ENSG00000167157.11 | transcript | ENST00000372469.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRSS35_chr6_83507534_83530704 | 83517039 | G | GTGGTTGC others(36): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 438 | 0.0023 | 43 | c.-21 others(60): Show |
PRSS35 | ENSG00000146250.7 | transcript | ENST00000369700.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRUNE2_chr9_76606376_76911114 | 76855082 | A | AAAAAAAA others(36): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0157 | 1 | 150 | 0.0067 | 43 | c.37- others(56): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
PRUNE2_chr9_76606376_76911114 | 76855082 | A | AAAAAAAA others(36): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0102 | 1 | 150 | 0.0067 | 43 | c.37- others(56): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
PRXL2A_chr10_80403551_80442115 | 80406757 | C | CTTATATA others(36): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0083 | 1 | 26 | 0.0385 | 43 | c.-18 others(54): Show |
PRXL2A | ENSG00000122378.14 | transcript | ENST00000606162.6 | protein_coding | 1793 | chr10 | TogoVar | |||||||
PSAT1_chr9_78292125_78335093 | 78326955 | A | ATATATAT others(36): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0201 | 1 | 156 | 0.0064 | 43 | c.870 others(60): Show |
PSAT1 | ENSG00000135069.14 | transcript | ENST00000376588.4 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PSAT1_chr9_78292125_78335093 | 78326955 | A | ATATATAT others(36): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0139 | 1 | 156 | 0.0064 | 43 | c.870 others(60): Show |
PSAT1 | ENSG00000135069.14 | transcript | ENST00000376588.4 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73218661 | T | TCCCGCAC others(36): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02015.hp2 HG02071.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 a0001c0001t0002g0338 a0001c0001t0002g0340 others(16): Show |
19 | 376 | 0.0505 | 43 | c.124 others(60): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSG5_chr19_43162743_43191536 | 43182705 | A | ATTTTTTT others(36): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 | 1 | 65 | 0.0154 | 43 | c.430 others(60): Show |
PSG5 | ENSG00000204941.14 | transcript | ENST00000342951.11 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSMA3_chr14_58239843_58277004 | 58254340 | A | ATATATAT others(36): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 152 | 0.0066 | 43 | c.228 others(60): Show |
PSMA3 | ENSG00000100567.13 | transcript | ENST00000216455.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSMB3_chr17_38747741_38769225 | 38769008 | T | TGAGATCT others(36): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 430 | 0.0023 | 43 | c.*48 others(54): Show |
PSMB3 | ENSG00000277791.5 | transcript | ENST00000619426.5 | protein_coding | 4784 | chr17 | TogoVar | |||||||
PSMD14_chr2_161303425_161416717 | 161389889 | G | GTTGTTTT others(36): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 35 | 0.0286 | 43 | c.571 others(60): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSMF1_chr20_1113602_1177246 | 1133569 | A | ATATATAT others(36): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0153 | 1 | 150 | 0.0067 | 43 | c.366 others(60): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |