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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
POU6F2_chr7_38972909_39473601 | 39015982 | G | GATATATA others(42): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0002 | a0002c0008 | a0002c0008t0006 | a0002c0008t0006g0137 | 1 | 112 | 0.0089 | 49 | c.105 others(68): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46174266 | G | GAAGGAAG others(42): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01071.hp1 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0064 others(32): Show |
36 | 41 | 0.8780 | 49 | c.-12 others(68): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46174266 | G | GAAGGAAG others(42): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02970.hp2 HG03130.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011 | a0001c0001t0001g0039 a0001c0001t0001g0120 a0001c0001t0001g0191 others(3): Show |
6 | 11 | 0.5455 | 49 | c.-12 others(68): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPARGC1A_chr4_23787021_23895047 | 23844738 | A | ATATATTA others(42): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03654.hp2 NA20300.hp1 |
a0001a0003 | a0001c0001a0001c0016a0003c0004 | a0001c0001t0007a0001c0016t0014a0003c0004t0002 | a0001c0001t0007g0277 a0001c0016t0014g0281 a0003c0004t0002g0323 |
3 | 280 | 0.0107 | 49 | c.235 others(68): Show |
PPARGC1A | ENSG00000109819.9 | transcript | ENST00000264867.7 | protein_coding | 2/12 | chr4 | TogoVar | |||||||
PPARGC1A_chr4_23787021_23895047 | 23844738 | A | ATATATTA others(42): Show |
intron_variant | MODIFIER | HG02523.hp1 NA18950.hp2 NA18955.hp1 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0002a0003c0004t0043 | a0003c0004t0002g0018 a0003c0004t0002g0101 a0003c0004t0002g0106 others(5): Show |
8 | 285 | 0.0281 | 49 | c.235 others(68): Show |
PPARGC1A | ENSG00000109819.9 | transcript | ENST00000264867.7 | protein_coding | 2/12 | chr4 | TogoVar | |||||||
PPEF2_chr4_75854867_75907452 | 75877006 | A | AAAAAGAA others(42): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 11 | 0.0909 | 49 | c.934 others(64): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 10/16 | chr4 | TogoVar | |||||||
PPEF2_chr4_75854867_75907452 | 75877006 | A | AGAAAGAA others(42): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 11 | 0.0909 | 49 | c.934 others(64): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 10/16 | chr4 | TogoVar | |||||||
PPFIA1_chr11_70265690_70389396 | 70277058 | A | ATTATAAT others(42): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0015 | a0001c0015t0007 | a0001c0015t0007g0044 | 1 | 215 | 0.0047 | 49 | c.264 others(66): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70277058 | A | ATTATAAT others(42): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0045 | 1 | 215 | 0.0047 | 49 | c.264 others(66): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPP1CB_chr2_28746830_28807940 | 28785065 | C | CTTTTTTT others(42): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0043 | 1 | 152 | 0.0066 | 49 | c.592 others(66): Show |
PPP1CB | ENSG00000213639.11 | transcript | ENST00000395366.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPP1R37_chr19_45088179_45152285 | 45112261 | T | TCCTTCTG others(42): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02647.hp1 HG02886.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0184 a0001c0001t0001g0203 a0001c0001t0001g0204 others(6): Show |
9 | 340 | 0.0265 | 49 | c.202 others(68): Show |
PPP1R37 | ENSG00000104866.11 | transcript | ENST00000221462.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PPP1R37_chr19_45088179_45152285 | 45112298 | A | AGGCGTGG others(42): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01070.hp1 others(25): Show |
a0001a0002a0006 | a0001c0002a0001c0006a0001c0019others(2): Show | a0001c0002t0007a0001c0006t0007a0001c0019t0007others(2): Show | a0001c0002t0007g0293 a0001c0002t0007g0295 a0001c0002t0007g0296 others(23): Show |
28 | 340 | 0.0824 | 49 | c.202 others(68): Show |
PPP1R37 | ENSG00000104866.11 | transcript | ENST00000221462.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PPP1R3B_chr8_9131255_9155658 | 9154000 | A | ACCTCCCG others(42): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(423): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(62): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(191): Show |
426 | 439 | 0.9704 | 49 | c.-34 others(60): Show |
PPP1R3B | ENSG00000173281.5 | transcript | ENST00000310455.4 | protein_coding | 3343 | chr8 | TogoVar | |||||||
PPP3CA_chr4_101018418_101352526 | 101106456 | A | AGAAAGAA others(42): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 169 | 0.0059 | 49 | c.384 others(66): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 3/13 | chr4 | TogoVar | |||||||
PPP4R3A_chr14_91452508_91515310 | 91507370 | T | TATAGTAT others(42): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0332 | 1 | 368 | 0.0027 | 49 | c.142 others(66): Show |
PPP4R3A | ENSG00000100796.18 | transcript | ENST00000554943.6 | protein_coding | 1/14 | chr14 | TogoVar | |||||||
PPP4R3A_chr14_91452508_91515310 | 91507371 | A | ATAGTATA others(42): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 a0001c0001t0002g0129 |
2 | 227 | 0.0088 | 49 | c.142 others(66): Show |
PPP4R3A | ENSG00000100796.18 | transcript | ENST00000554943.6 | protein_coding | 1/14 | chr14 | TogoVar | |||||||
PPP4R3A_chr14_91452508_91515310 | 91507640 | A | AGTATATA others(42): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 187 | 0.0053 | 49 | c.142 others(66): Show |
PPP4R3A | ENSG00000100796.18 | transcript | ENST00000554943.6 | protein_coding | 1/14 | chr14 | TogoVar | |||||||
PRAMEF15_chr1_13310581_13327598 | 13316292 | C | CTGGTGCT others(42): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02896.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 a0001c0001t0003g0036 a0001c0001t0003g0037 |
4 | 300 | 0.0133 | 49 | c.-17 others(64): Show |
PRAMEF15 | ENSG00000204501.7 | transcript | ENST00000376152.2 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
PRAMEF15_chr1_13310581_13327598 | 13325610 | A | AATTTAAA others(42): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 300 | 0.0033 | 49 | c.*33 others(60): Show |
PRAMEF15 | ENSG00000204501.7 | transcript | ENST00000376152.2 | protein_coding | 3013 | chr1 | TogoVar | |||||||
PRAMEF4_chr1_12874212_12891201 | 12885509 | G | GTCACCAT others(42): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0022 | a0022c0025 | a0022c0025t0003 | a0022c0025t0003g0102 | 1 | 322 | 0.0031 | 49 | c.-17 others(64): Show |
PRAMEF4 | ENSG00000243073.4 | transcript | ENST00000235349.6 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
PRAMEF7_chr1_12911610_12925751 | 12921205 | G | GGGCATCA others(42): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0004 | 1 | 254 | 0.0039 | 49 | c.*79 others(58): Show |
PRAMEF7 | ENSG00000204510.6 | transcript | ENST00000697200.1 | protein_coding | 455 | chr1 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3165939 | A | ACTCACCT others(42): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0004 | a0001c0004t0073 | a0001c0004t0073g0143 | 1 | 135 | 0.0074 | 49 | c.38- others(66): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3287320 | C | CGCCACGC others(42): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 203 | 0.0049 | 49 | c.438 others(68): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3287405 | G | GAGCCGCC others(42): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0004 | a0001c0004t0055 | a0001c0004t0055g0004 | 1 | 206 | 0.0049 | 49 | c.438 others(68): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151737892 | T | TGGGGCCT others(42): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(34): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0039 a0001c0001t0001g0055 a0001c0001t0001g0080 others(34): Show |
37 | 250 | 0.1480 | 49 | c.466 others(68): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151738027 | G | GTGCCATT others(42): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02647.hp2 HG03209.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0105 a0001c0001t0002g0016 a0001c0001t0002g0150 others(3): Show |
6 | 159 | 0.0377 | 49 | c.466 others(68): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151738036 | C | CCACGGGG others(42): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01243.hp2 HG02280.hp1 others(11): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0135 a0001c0001t0001g0148 a0001c0001t0003g0147 others(11): Show |
14 | 57 | 0.2456 | 49 | c.466 others(68): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
PRKCB_chr16_23830983_24225611 | 23982043 | C | CTCTTTCC others(42): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03834.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0033a0001c0015t0030 | a0001c0001t0033g0060 a0001c0015t0030g0005 |
2 | 145 | 0.0138 | 49 | c.206 others(66): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | chr16 | TogoVar | |||||||
PRKCB_chr16_23830983_24225611 | 24021007 | T | TCTTTCTT others(42): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0119 | 1 | 146 | 0.0068 | 49 | c.289 others(68): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24108963 | G | GGGCTGGC others(42): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00639.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(21): Show | a0001c0001t0003g0075 a0001c0001t0004g0086 a0001c0001t0004g0106 others(23): Show |
26 | 133 | 0.1955 | 49 | c.822 others(66): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24108975 | C | CAGGGGGC others(42): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02559.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0002a0001c0005a0001c0010 | a0001c0002t0012a0001c0005t0013a0001c0010t0006others(1): Show | a0001c0002t0012g0141 a0001c0005t0013g0032 a0001c0010t0006g0147 others(1): Show |
4 | 120 | 0.0333 | 49 | c.822 others(66): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 7/16 | chr16 | TogoVar | |||||||
PRKCB_chr16_23830983_24225611 | 24108975 | C | CGGGGGGC others(42): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02976.hp2 HG03209.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0019a0001c0002t0070a0001c0003t0075 | a0001c0001t0019g0102 a0001c0002t0070g0045 a0001c0003t0075g0019 |
3 | 119 | 0.0252 | 49 | c.822 others(66): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24108975 | C | CGGGGGGC others(42): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG01346.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0010a0001c0001t0011a0001c0001t0014others(18): Show | a0001c0001t0010g0053 a0001c0001t0011g0112 a0001c0001t0014g0137 others(19): Show |
22 | 138 | 0.1594 | 49 | c.822 others(66): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24109003 | C | CGGACGGG others(42): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02965.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0028a0001c0002t0011a0001c0003t0071others(2): Show | a0001c0001t0028g0048 a0001c0002t0011g0021 a0001c0003t0071g0046 others(2): Show |
5 | 146 | 0.0342 | 49 | c.822 others(66): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24109004 | G | GGATGGGG others(42): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02258.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0019a0001c0001t0069a0001c0001t0076others(7): Show | a0001c0001t0019g0144 a0001c0001t0069g0051 a0001c0001t0076g0100 others(8): Show |
11 | 145 | 0.0759 | 49 | c.822 others(66): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24109183 | C | CGGGGCGG others(42): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0120 | 1 | 146 | 0.0068 | 49 | c.822 others(66): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2094560 | A | ATGAACCT others(42): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02922.hp2 HG03209.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0011 | a0001c0001t0001g0003 a0001c0001t0001g0239 a0001c0001t0002g0023 others(2): Show |
5 | 281 | 0.0178 | 49 | c.334 others(68): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2094579 | C | CGTTCTGA others(42): Show |
intron_variant | MODIFIER | HG03225.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 a0001c0001t0002g0029 |
2 | 284 | 0.0070 | 49 | c.334 others(68): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKX_chrX_3599340_3718649 | 3639300 | G | GGGGGGTG others(42): Show |
intron_variant | MODIFIER | HG03579.hp1 NA19064.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0111a0002c0003t0008 | a0001c0001t0111g0178 a0002c0003t0008g0206 |
2 | 213 | 0.0094 | 49 | c.719 others(66): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 4/8 | chrX | TogoVar | |||||||
PRORP_chr14_35117552_35282622 | 35172453 | C | CTTCCTTC others(42): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01099.hp2 HG01256.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(3): Show | a0001c0001t0001g0124 a0001c0001t0010g0046 a0001c0002t0001g0218 others(23): Show |
26 | 143 | 0.1818 | 49 | c.116 others(68): Show |
PRORP | ENSG00000100890.16 | transcript | ENST00000534898.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PRPF8_chr17_1645629_1689867 | 1689507 | A | AGGGGCTG others(42): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 HG03130.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0012t0001g0099 |
3 | 180 | 0.0167 | 49 | c.-47 others(60): Show |
PRPF8 | ENSG00000174231.18 | transcript | ENST00000304992.11 | protein_coding | 4641 | chr17 | TogoVar | |||||||
PRPF8_chr17_1645629_1689867 | 1689516 | C | CCCCCCCA others(42): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0114 | 1 | 290 | 0.0034 | 49 | c.-47 others(60): Show |
PRPF8 | ENSG00000174231.18 | transcript | ENST00000304992.11 | protein_coding | 4650 | chr17 | TogoVar | |||||||
PRPF8_chr17_1645629_1689867 | 1689534 | G | GGACGGGG others(42): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 287 | 0.0035 | 49 | c.-47 others(60): Show |
PRPF8 | ENSG00000174231.18 | transcript | ENST00000304992.11 | protein_coding | 4668 | chr17 | TogoVar | |||||||
PRRC2B_chr9_131389086_131505193 | 131420493 | C | CTTTCTTT others(42): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0118 | 1 | 92 | 0.0109 | 49 | c.-51 others(66): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRTN3_chr19_835999_853175 | 844284 | C | CCGCGCCT others(42): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02886.hp1 HG03195.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0118 |
3 | 388 | 0.0077 | 49 | c.369 others(64): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRTN3_chr19_835999_853175 | 844370 | T | TGCCTCTC others(42): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01891.hp2 HG01978.hp2 others(30): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0031 others(27): Show |
33 | 304 | 0.1086 | 49 | c.369 others(64): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRTN3_chr19_835999_853175 | 844405 | G | GCCTCTCC others(42): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0160 | 1 | 414 | 0.0024 | 49 | c.369 others(64): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRXL2B_chr1_2581777_2596468 | 2592330 | G | GCCCCCCC others(42): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 225 | 0.0044 | 49 | c.*29 others(60): Show |
PRXL2B | ENSG00000157870.17 | transcript | ENST00000419916.8 | protein_coding | 863 | chr1 | TogoVar | |||||||
PSAT1_chr9_78292125_78335093 | 78326955 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149 | 1 | 156 | 0.0064 | 49 | c.870 others(66): Show |
PSAT1 | ENSG00000135069.14 | transcript | ENST00000376588.4 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73184306 | C | CCCCCCAC others(42): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02922.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0028 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 others(1): Show |
4 | 376 | 0.0106 | 49 | c.481 others(66): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |