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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRDM16_chr1_3064203_3443621 | 3428146 | TACCCCGA others(41): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG03139.hp2 NA18522.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0007a0002c0030 | a0001c0001t0001a0001c0001t0007a0001c0001t0019others(3): Show | a0001c0001t0001g0179 a0001c0001t0007g0054 a0001c0001t0019g0101 others(3): Show |
6 | 188 | 0.0319 | -48 | c.328 others(67): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3428271 | GCTGCAGG others(41): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02572.hp1 others(13): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0028a0001c0001t0042a0001c0001t0058others(7): Show | a0001c0001t0028g0111 a0001c0001t0028g0126 a0001c0001t0042g0124 others(13): Show |
16 | 204 | 0.0784 | -48 | c.328 others(67): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123089102 | TCTCTCTC others(41): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0227 | 1 | 306 | 0.0033 | -48 | c.-43 others(57): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 138 | chr5 | TogoVar | |||||||
PRDM6_chr5_123084241_123199266 | 123089104 | TCTCTCTC others(41): Show |
T | upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0225 | 1 | 309 | 0.0032 | -48 | c.-43 others(57): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 136 | chr5 | TogoVar | |||||||
PRDM6_chr5_123084241_123199266 | 123089108 | TCTCTCTC others(41): Show |
T | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0253 | 1 | 295 | 0.0034 | -48 | c.-42 others(57): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 132 | chr5 | TogoVar | |||||||
PRDM6_chr5_123084241_123199266 | 123089112 | TCTCTCTC others(41): Show |
T | upstream_gene_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 | 1 | 296 | 0.0034 | -48 | c.-42 others(57): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 128 | chr5 | TogoVar | |||||||
PRG4_chr1_186291279_186319567 | 186307349 | TCTGCACC others(41): Show |
T | conservative_inframe_deletion | MODERATE | HG03225.hp2 NA19004.hp2 |
a0001 | a0001c0001a0001c0032 | a0001c0001t0001a0001c0032t0001 | a0001c0001t0001g0036 a0001c0032t0001g0091 |
2 | 426 | 0.0047 | -48 | c.165 others(57): Show |
p.Ser others(13): Show |
PRG4 | ENSG00000116690.13 | transcript | ENST00000445192.7 | protein_coding | 7/13 | 1702/5049 | 1657/4215 | 553/1404 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
PRG4_chr1_186291279_186319567 | 186307781 | CCTGCTCC others(41): Show |
C | disruptive_inframe_deletion | MODERATE | HG02717.hp1 | a0022 | a0022c0022 | a0022c0022t0003 | a0022c0022t0003g0165 | 1 | 425 | 0.0024 | -48 | c.208 others(57): Show |
p.Glu others(13): Show |
PRG4 | ENSG00000116690.13 | transcript | ENST00000445192.7 | protein_coding | 7/13 | 2127/5049 | 2082/4215 | 694/1404 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
PRKAA1_chr5_40754389_40803374 | 40800533 | ATCCGGGA others(41): Show |
A | upstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 377 | 0.0027 | -48 | c.-23 others(59): Show |
PRKAA1 | ENSG00000132356.12 | transcript | ENST00000397128.7 | protein_coding | 2160 | chr5 | TogoVar | |||||||
PRKAA1_chr5_40754389_40803374 | 40800559 | CCCCCGCC others(41): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(100): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0012 others(82): Show |
103 | 400 | 0.2575 | -48 | c.-24 others(59): Show |
PRKAA1 | ENSG00000132356.12 | transcript | ENST00000397128.7 | protein_coding | 2186 | chr5 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151854961 | TACCACCC others(41): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01168.hp2 HG02015.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0074 others(13): Show |
16 | 196 | 0.0816 | -48 | c.114 others(67): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKCA_chr17_66297613_66815743 | 66562090 | AATATATA others(41): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01099.hp1 HG02273.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0003g0102 a0001c0001t0004g0046 a0001c0001t0004g0073 others(8): Show |
11 | 175 | 0.0629 | -48 | c.288 others(67): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66562136 | ATTATATA others(41): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00639.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0008 a0001c0001t0001g0160 a0001c0001t0002g0021 others(37): Show |
40 | 176 | 0.2273 | -48 | c.288 others(67): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66798506 | GTGACGGT others(41): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0089 | 1 | 176 | 0.0057 | -48 | c.185 others(67): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66798519 | CGGTGGTG others(41): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0156 | 1 | 117 | 0.0085 | -48 | c.185 others(67): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66799046 | ATGGTGAT others(41): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0006 | a0001c0006t0052 | a0001c0006t0052g0091 | 1 | 110 | 0.0091 | -48 | c.185 others(67): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23865481 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0005 | a0001c0005t0013 | a0001c0005t0013g0032 | 1 | 142 | 0.0070 | -48 | c.205 others(67): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23865489 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG02258.hp1 HG02559.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0049a0001c0001t0076a0001c0002t0012others(3): Show | a0001c0001t0049g0101 a0001c0001t0076g0100 a0001c0002t0012g0098 others(3): Show |
6 | 146 | 0.0411 | -48 | c.205 others(67): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24125059 | TTTACCTA others(41): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00609.hp2 others(104): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(90): Show | a0001c0001t0002g0129 a0001c0001t0003g0075 a0001c0001t0004g0086 others(104): Show |
107 | 146 | 0.7329 | -48 | c.106 others(67): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53906054 | CCTCCTCC others(41): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00609.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0257 a0001c0001t0001g0310 a0001c0002t0001g0091 others(17): Show |
24 | 359 | 0.0669 | -48 | c.176 others(65): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2121813 | CGGTGGTG others(41): Show |
C | intron_variant | MODIFIER | HG02155.hp1 HG02155.hp2 NA18612.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0011a0001c0004t0001a0001c0004t0002 | a0001c0002t0011g0012 a0001c0004t0001g0007 a0001c0004t0002g0040 |
3 | 183 | 0.0164 | -48 | c.335 others(67): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2121814 | GGTGGTGG others(41): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG03516.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0113 a0001c0001t0001g0164 a0001c0001t0001g0235 others(1): Show |
4 | 272 | 0.0147 | -48 | c.335 others(67): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122003 | CACGGTGG others(41): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0158 | 1 | 269 | 0.0037 | -48 | c.335 others(67): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2122006 | GGTGGTGG others(41): Show |
G | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0246 | 1 | 282 | 0.0035 | -48 | c.335 others(67): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122170 | TGGTGGTT others(41): Show |
T | intron_variant | MODIFIER | HG02027.hp1 HG02129.hp1 HG02148.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0066 a0001c0002t0001g0222 a0001c0002t0001g0223 others(5): Show |
8 | 266 | 0.0301 | -48 | c.335 others(67): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122811 | GGCGGTGG others(41): Show |
G | intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0232 | 1 | 278 | 0.0036 | -48 | c.335 others(67): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122813 | CGGTGGTT others(41): Show |
C | intron_variant | MODIFIER | HG02602.hp2 HG03942.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0149 a0001c0002t0004g0215 |
2 | 170 | 0.0118 | -48 | c.335 others(67): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2123505 | GGCGGTGG others(41): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0021 | 1 | 282 | 0.0035 | -48 | c.335 others(67): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKD1_chr14_29571479_29932847 | 29826742 | TACACATA others(41): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01255.hp1 HG01361.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0047 others(10): Show |
13 | 142 | 0.0915 | -48 | c.264 others(69): Show |
PRKD1 | ENSG00000184304.17 | transcript | ENST00000331968.11 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
PRKD1_chr14_29571479_29932847 | 29826754 | TATACATA others(41): Show |
T | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 147 | 0.0068 | -48 | c.264 others(69): Show |
PRKD1 | ENSG00000184304.17 | transcript | ENST00000331968.11 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
PRKDC_chr8_47768111_47965136 | 47922060 | CGTGAGCC others(41): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp2 HG02965.hp1 others(1): Show |
a0008 | a0008c0006 | a0008c0006t0001 | a0008c0006t0001g0060 a0008c0006t0001g0061 a0008c0006t0001g0062 others(1): Show |
4 | 196 | 0.0204 | -48 | c.242 others(67): Show |
PRKDC | ENSG00000253729.9 | transcript | ENST00000314191.7 | protein_coding | 21/85 | chr8 | TogoVar | |||||||
PRKG1_chr10_51069487_52303350 | 51392935 | GGGGCGGC others(41): Show |
G | intron_variant | MODIFIER | HG03225.hp1 HG03453.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0052 a0001c0002t0002g0025 |
2 | 64 | 0.0313 | -48 | c.479 others(67): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 51614931 | CCATCTTT others(41): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 64 | 0.0156 | -48 | c.592 others(69): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 52302460 | GCACATAT others(41): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01192.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0002g0026 a0001c0001t0002g0036 a0001c0001t0002g0041 others(6): Show |
9 | 61 | 0.1475 | -48 | c.*85 others(59): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 4111 | chr10 | TogoVar | |||||||
PRKG1_chr10_51069487_52303350 | 52302484 | GCACATAT others(41): Show |
G | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02622.hp1 HG02818.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0003g0029 a0001c0001t0005g0031 a0001c0001t0006g0010 others(6): Show |
9 | 46 | 0.1957 | -48 | c.*85 others(59): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 4135 | chr10 | TogoVar | |||||||
PRORP_chr14_35117552_35282622 | 35233412 | CTTATCTA others(41): Show |
C | intron_variant | MODIFIER | HG02083.hp2 HG02129.hp1 HG03710.hp2 others(5): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0010 | a0001c0001t0002a0001c0001t0006a0001c0002t0002others(1): Show | a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0110 others(5): Show |
8 | 312 | 0.0256 | -48 | c.127 others(69): Show |
PRORP | ENSG00000100890.16 | transcript | ENST00000534898.9 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
PRR29_chr17_63993351_64009305 | 63993474 | GGGAAGGA others(41): Show |
G | upstream_gene_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 404 | 0.0025 | -48 | c.-48 others(59): Show |
PRR29 | ENSG00000224383.8 | transcript | ENST00000412177.6 | protein_coding | 4876 | chr17 | TogoVar | |||||||
PRRG3_chrX_151690458_151710924 | 151703868 | TTTTTTTT others(41): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02723.hp2 others(10): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0007a0001c0001t0073a0001c0007t0072 | a0001c0001t0007g0004 a0001c0001t0007g0007 a0001c0001t0007g0019 others(3): Show |
13 | 332 | 0.0392 | -48 | c.*28 others(59): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2837 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PRSS22_chr16_2847730_2863170 | 2857212 | CTCCCCAG others(41): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 310 | 0.0032 | -48 | c.83- others(61): Show |
PRSS22 | ENSG00000005001.10 | transcript | ENST00000161006.8 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
PRSS57_chr19_680546_700452 | 682211 | GTCTAGCC others(41): Show |
G | downstream_gene_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0093 | 1 | 334 | 0.0030 | -48 | c.*34 others(59): Show |
PRSS57 | ENSG00000185198.12 | transcript | ENST00000329267.9 | protein_coding | 3334 | chr19 | TogoVar | |||||||
PRSS57_chr19_680546_700452 | 682249 | TGTATGGA others(41): Show |
T | downstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 440 | 0.0023 | -48 | c.*34 others(59): Show |
PRSS57 | ENSG00000185198.12 | transcript | ENST00000329267.9 | protein_coding | 3296 | chr19 | TogoVar | |||||||
PRSS57_chr19_680546_700452 | 682273 | AGTATGGA others(41): Show |
A | downstream_gene_variant | MODIFIER | HG01255.hp2 HG01261.hp2 HG01516.hp1 others(11): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0011 a0001c0005t0001g0018 a0001c0005t0001g0032 others(3): Show |
14 | 439 | 0.0319 | -48 | c.*33 others(59): Show |
PRSS57 | ENSG00000185198.12 | transcript | ENST00000329267.9 | protein_coding | 3272 | chr19 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865248 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0020 | 1 | 203 | 0.0049 | -48 | c.163 others(67): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73184109 | CCCCCCCA others(41): Show |
C | intron_variant | MODIFIER | HG02129.hp1 HG02280.hp2 HG03130.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0201 others(4): Show |
7 | 374 | 0.0187 | -48 | c.481 others(65): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73184207 | CCCCCCCA others(41): Show |
C | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0216 | 1 | 376 | 0.0027 | -48 | c.481 others(65): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73184246 | GGGGGGCT others(41): Show |
G | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0224 | 1 | 376 | 0.0027 | -48 | c.481 others(65): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSMD13_chr11_231976_257984 | 249573 | GGGGAGAG others(41): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(33): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0002g0121 others(24): Show |
36 | 448 | 0.0804 | -48 | c.774 others(63): Show |
PSMD13 | ENSG00000185627.19 | transcript | ENST00000532097.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PSMD3_chr17_39975807_40002959 | 39984897 | TTCCCAGC others(41): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG03579.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 2 | 416 | 0.0048 | -48 | c.411 others(63): Show |
PSMD3 | ENSG00000108344.15 | transcript | ENST00000264639.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PSPC1_chr13_19697500_19787945 | 19779867 | GTCGGCCC others(41): Show |
G | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0036 | 1 | 256 | 0.0039 | -48 | c.372 others(65): Show |
PSPC1 | ENSG00000121390.19 | transcript | ENST00000338910.9 | protein_coding | 1/8 | chr13 | TogoVar | |||||||
PSPC1_chr13_19697500_19787945 | 19779872 | CCCCCCGC others(41): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0115 | 1 | 256 | 0.0039 | -48 | c.372 others(65): Show |
PSPC1 | ENSG00000121390.19 | transcript | ENST00000338910.9 | protein_coding | 1/8 | chr13 | TogoVar |