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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCDHGB1_chr5_141345099_141517975 | 141502866 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(50): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0099a0001c0001t0001g0162a0001c0001t0003g0097others(50): Show | 53 | 278 | 0.1907 | 9 | c.246 others(28): Show |
PCDHGB1 | ENSG00000254221.3 | transcript | ENST00000523390.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB2_chr5_141354994_141517975 | 141376676 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG01192.hp1 others(9): Show |
a0003 | a0003c0003a0003c0016 | a0003c0003t0001a0003c0003t0018a0003c0016t0001 | a0003c0003t0001g0260a0003c0003t0001g0261a0003c0003t0001g0266others(9): Show | 12 | 288 | 0.0417 | 9 | c.242 others(30): Show |
PCDHGB2 | ENSG00000253910.3 | transcript | ENST00000522605.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB2_chr5_141354994_141517975 | 141379889 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG02055.hp1 others(3): Show |
a0003a0004a0005 | a0003c0003a0004c0004a0005c0005 | a0003c0003t0001a0003c0003t0002a0004c0004t0001others(2): Show | a0003c0003t0001g0280a0003c0003t0001g0281a0003c0003t0002g0245others(3): Show | 6 | 288 | 0.0208 | 9 | c.242 others(30): Show |
PCDHGB2 | ENSG00000253910.3 | transcript | ENST00000522605.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB2_chr5_141354994_141517975 | 141454796 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0087a0002c0002t0001g0180a0002c0002t0002g0198others(19): Show | 22 | 288 | 0.0764 | 9 | c.242 others(30): Show |
PCDHGB2 | ENSG00000253910.3 | transcript | ENST00000522605.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB2_chr5_141354994_141517975 | 141502866 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(54): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0019a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0223others(54): Show | 57 | 288 | 0.1979 | 9 | c.248 others(28): Show |
PCDHGB2 | ENSG00000253910.3 | transcript | ENST00000522605.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB3_chr5_141365242_141517975 | 141376676 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG01192.hp2 others(9): Show |
a0003 | a0003c0003a0003c0014a0003c0023 | a0003c0003t0001a0003c0003t0016a0003c0014t0001others(1): Show | a0003c0003t0001g0273a0003c0003t0001g0275a0003c0003t0001g0277others(9): Show | 12 | 296 | 0.0405 | 9 | c.241 others(28): Show |
PCDHGB3 | ENSG00000262209.3 | transcript | ENST00000576222.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB3_chr5_141365242_141517975 | 141379889 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG02055.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0004t0001others(2): Show | a0001c0001t0002g0262a0001c0001t0003g0248a0001c0004t0001g0251others(3): Show | 6 | 296 | 0.0203 | 9 | c.241 others(28): Show |
PCDHGB3 | ENSG00000262209.3 | transcript | ENST00000576222.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB3_chr5_141365242_141517975 | 141454796 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG00621.hp1 others(19): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0023 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0175a0001c0001t0001g0230a0001c0001t0002g0220others(19): Show | 22 | 296 | 0.0743 | 9 | c.241 others(30): Show |
PCDHGB3 | ENSG00000262209.3 | transcript | ENST00000576222.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB3_chr5_141365242_141517975 | 141502866 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(58): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0030a0001c0001t0001g0231a0001c0001t0001g0232others(58): Show | 61 | 296 | 0.2061 | 9 | c.247 others(28): Show |
PCDHGB3 | ENSG00000262209.3 | transcript | ENST00000576222.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB4_chr5_141382698_141517975 | 141454796 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00621.hp1 others(18): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0009others(18): Show | 21 | 294 | 0.0714 | 9 | c.239 others(30): Show |
PCDHGB4 | ENSG00000253953.3 | transcript | ENST00000519479.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB4_chr5_141382698_141517975 | 141502866 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(62): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0010a0001c0001t0001g0088a0001c0001t0001g0089others(62): Show | 65 | 294 | 0.2211 | 9 | c.245 others(28): Show |
PCDHGB4 | ENSG00000253953.3 | transcript | ENST00000519479.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB5_chr5_141392947_141517975 | 141454796 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(19): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0002a0001c0001t0010a0002c0002t0002others(5): Show | a0001c0001t0002g0009a0001c0001t0002g0011a0001c0001t0002g0012others(19): Show | 22 | 300 | 0.0733 | 9 | c.239 others(30): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB5_chr5_141392947_141517975 | 141502866 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(63): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0001g0263a0001c0001t0001g0265a0001c0001t0003g0203others(63): Show | 66 | 300 | 0.2200 | 9 | c.245 others(28): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB6_chr5_141403021_141517975 | 141454796 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp2 others(19): Show |
a0002 | a0002c0002a0002c0003a0002c0009others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(4): Show | a0002c0002t0001g0250a0002c0002t0002g0257a0002c0002t0003g0005others(19): Show | 22 | 302 | 0.0729 | 9 | c.241 others(30): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB6_chr5_141403021_141517975 | 141502866 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00621.hp2 others(63): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0001t0002g0028others(63): Show | 66 | 302 | 0.2185 | 9 | c.247 others(28): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB7_chr5_141412677_141517975 | 141454796 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00621.hp1 others(19): Show |
a0001a0004a0008 | a0001c0001a0004c0005a0004c0019others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0002g0061a0001c0001t0002g0283a0001c0001t0002g0287others(19): Show | 22 | 306 | 0.0719 | 9 | c.241 others(30): Show |
PCDHGB7 | ENSG00000254122.3 | transcript | ENST00000398594.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB7_chr5_141412677_141517975 | 141502866 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00621.hp1 others(64): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0017others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0094a0001c0001t0001g0097a0001c0001t0001g0230others(64): Show | 67 | 306 | 0.2190 | 9 | c.247 others(28): Show |
PCDHGB7 | ENSG00000254122.3 | transcript | ENST00000398594.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGC3_chr5_141470966_141517975 | 141502866 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(72): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0106a0001c0001t0001g0199a0001c0001t0001g0200others(63): Show | 75 | 350 | 0.2143 | 9 | c.249 others(28): Show |
PCDHGC3 | ENSG00000240184.7 | transcript | ENST00000308177.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGC4_chr5_141480030_141517975 | 141502866 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0028a0001c0001t0001g0062a0001c0001t0001g0273others(61): Show | 77 | 354 | 0.2175 | 9 | c.250 others(28): Show |
PCDHGC4 | ENSG00000242419.6 | transcript | ENST00000306593.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGC5_chr5_141484081_141517975 | 141502866 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(76): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(10): Show | a0001c0001t0001g0056a0001c0001t0002g0020a0001c0001t0002g0213others(62): Show | 79 | 364 | 0.2170 | 9 | c.252 others(28): Show |
PCDHGC5 | ENSG00000240764.4 | transcript | ENST00000252087.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCED1B_chr12_47074621_47241660 | 47089457 | A | AAATACAT others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02056.hp1 HG02300.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0058a0001c0001t0001g0107a0001c0001t0001g0267others(3): Show | 6 | 322 | 0.0186 | 9 | c.-60 others(28): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCED1B_chr12_47074621_47241660 | 47217436 | A | AAAAAGAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01358.hp2 HG02129.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0042a0001c0001t0001g0078a0001c0001t0001g0097others(14): Show | 17 | 322 | 0.0528 | 9 | c.-58 others(24): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCED1B_chr12_47074621_47241660 | 47217477 | A | AAAGAAAA others(2): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02622.hp2 HG03491.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0042a0001c0001t0001g0078a0001c0001t0001g0097others(5): Show | 8 | 322 | 0.0248 | 9 | c.-58 others(24): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCED1B_chr12_47074621_47241660 | 47217516 | G | GAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02145.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0072a0001c0001t0001g0298a0001c0001t0002g0313others(3): Show | 6 | 322 | 0.0186 | 9 | c.-58 others(24): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCGF6_chr10_103297796_103356140 | 103343832 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01884.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0347a0001c0001t0001g0350a0001c0001t0001g0357others(7): Show | 10 | 372 | 0.0269 | 9 | c.782 others(26): Show |
PCGF6 | ENSG00000156374.16 | transcript | ENST00000369847.4 | protein_coding | 6/9 | chr10 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 82809601 | G | GTAATAAT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG01081.hp1 others(36): Show |
a0001a0002a0003others(17): Show | a0001c0010a0001c0018a0001c0019others(25): Show | a0001c0010t0003a0001c0010t0004a0001c0018t0003others(28): Show | a0001c0010t0003g0139a0001c0010t0004g0017a0001c0018t0003g0018others(36): Show | 39 | 188 | 0.2075 | 9 | c.147 others(30): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 20/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 82839902 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02572.hp2 HG02723.hp1 others(2): Show |
a0001a0006a0058 | a0001c0001a0001c0066a0006c0042others(1): Show | a0001c0001t0006a0001c0066t0006a0006c0042t0006others(1): Show | a0001c0001t0006g0179a0001c0001t0006g0180a0001c0066t0006g0124others(2): Show | 5 | 188 | 0.0266 | 9 | c.140 others(30): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 14/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83032373 | T | TCCCTCAC others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01891.hp2 HG02055.hp1 others(5): Show |
a0001a0006a0021others(3): Show | a0001c0060a0006c0044a0021c0020others(4): Show | a0001c0060t0033a0006c0044t0016a0021c0020t0014others(4): Show | a0001c0060t0033g0025a0006c0044t0016g0038a0021c0020t0014g0026others(5): Show | 8 | 188 | 0.0426 | 9 | c.330 others(30): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83096830 | A | AAAATATA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00544.hp1 others(59): Show |
a0001a0002a0003others(32): Show | a0001c0001a0001c0010a0002c0004others(39): Show | a0001c0001t0002a0001c0001t0018a0001c0010t0004others(43): Show | a0001c0001t0002g0107a0001c0001t0018g0144a0001c0010t0004g0017others(59): Show | 62 | 188 | 0.3298 | 9 | c.330 others(30): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCM1_chr8_17917988_18034948 | 18033481 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 HG02132.hp2 HG03516.hp2 others(6): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0007others(1): Show | a0001c0001t0004a0002c0002t0004a0002c0007t0004others(1): Show | a0001c0001t0004g0044a0002c0002t0004g0184a0002c0002t0004g0185others(6): Show | 9 | 368 | 0.0245 | 9 | c.*58 others(20): Show |
PCM1 | ENSG00000078674.20 | transcript | ENST00000325083.13 | protein_coding | 3534 | chr8 | TogoVar | ||||||
PCMT1_chr6_149744741_149816419 | 149769308 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01169.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0125others(45): Show | 48 | 334 | 0.1437 | 9 | c.56- others(24): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PCMTD2_chr20_64250748_64281226 | 64255723 | A | AGGCGGCG others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG01074.hp2 others(21): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0071a0001c0001t0001g0073a0001c0001t0003g0018others(15): Show | 24 | 332 | 0.0723 | 9 | c.-17 others(18): Show |
PCMTD2 | ENSG00000203880.13 | transcript | ENST00000308824.11 | protein_coding | 24 | chr20 | TogoVar | ||||||
PCNP_chr3_101569180_101599465 | 101596695 | A | AATTATTA others(2): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG01346.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0051a0001c0001t0001g0205others(2): Show | 5 | 424 | 0.0118 | 9 | c.*39 others(20): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 2231 | chr3 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46414455 | C | CCCTCCTC others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
a0002a0003a0004others(47): Show | a0002c0002a0002c0018a0002c0022others(62): Show | a0002c0002t0001a0002c0018t0001a0002c0022t0001others(66): Show | a0002c0002t0001g0035a0002c0002t0001g0036a0002c0002t0001g0037others(225): Show | 228 | 332 | 0.6868 | 9 | c.615 others(28): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 29/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910040 | T | TCCTCCTC others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0134a0001c0003t0013g0135a0001c0003t0013g0136others(2): Show | 5 | 352 | 0.0142 | 9 | c.153 others(26): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910168 | C | CTCCTCCT others(2): Show |
intron_variant | MODIFIER | HG02056.hp2 NA18955.hp1 NA18961.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0007a0001c0004t0009a0001c0004t0014 | a0001c0004t0007g0094a0001c0004t0007g0096a0001c0004t0007g0098others(3): Show | 6 | 352 | 0.0171 | 9 | c.153 others(26): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910189 | C | CTCCTCCT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02083.hp2 HG02132.hp2 others(12): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0005a0001c0002t0007a0001c0002t0009others(4): Show | a0001c0002t0005g0079a0001c0002t0007g0084a0001c0002t0007g0085others(12): Show | 15 | 352 | 0.0426 | 9 | c.153 others(26): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX2_chr1_232978435_233300725 | 233235957 | A | AAATATAT others(2): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02055.hp2 HG02922.hp2 others(2): Show |
a0001a0004a0022 | a0001c0001a0001c0004a0004c0005others(2): Show | a0001c0001t0003a0001c0004t0001a0004c0005t0020others(2): Show | a0001c0001t0003g0037a0001c0004t0001g0085a0004c0005t0020g0039others(2): Show | 5 | 146 | 0.0343 | 9 | c.235 others(26): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 9/33 | chr1 | TogoVar | ||||||
PCNX4_chr14_60086923_60153221 | 60096147 | A | ATCTGGGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(147): Show |
a0001a0005a0009others(6): Show | a0001c0001a0001c0021a0001c0023others(9): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(39): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(106): Show | 150 | 308 | 0.4870 | 9 | c.-54 others(26): Show |
PCNX4 | ENSG00000126773.13 | transcript | ENST00000406854.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCOLCE2_chr3_142812874_142894083 | 142893969 | T | TTTATTAT others(2): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 HG02572.hp2 HG02683.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0001t0001g0175others(13): Show | 19 | 342 | 0.0556 | 9 | c.-50 others(20): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 4887 | chr3 | TogoVar | ||||||
PCP4L1_chr1_161253745_161290450 | 161270569 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(116): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0010others(87): Show | 119 | 402 | 0.2960 | 9 | c.9+1 others(24): Show |
PCP4L1 | ENSG00000248485.2 | transcript | ENST00000504449.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PCSK1_chr5_96385333_96438248 | 96420576 | A | AGGAAGAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01891.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0020a0001c0001t0026a0001c0002t0010others(4): Show | a0001c0001t0020g0113a0001c0001t0026g0312a0001c0002t0010g0309others(8): Show | 11 | 392 | 0.0281 | 9 | c.620 others(26): Show |
PCSK1 | ENSG00000175426.11 | transcript | ENST00000311106.8 | protein_coding | 5/13 | chr5 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 75902214 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01192.hp1 HG01496.hp2 others(5): Show |
a0001a0002a0013others(3): Show | a0001c0049a0001c0054a0001c0063others(5): Show | a0001c0049t0013a0001c0054t0010a0001c0063t0003others(5): Show | a0001c0049t0013g0120a0001c0054t0010g0095a0001c0063t0003g0066others(5): Show | 8 | 166 | 0.0482 | 9 | c.192 others(28): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76018007 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00738.hp2 others(26): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0063a0001c0095others(23): Show | a0001c0001t0002a0001c0001t0008a0001c0063t0003others(25): Show | a0001c0001t0002g0097a0001c0001t0008g0068a0001c0063t0003g0066others(26): Show | 29 | 166 | 0.1747 | 9 | c.412 others(26): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76075224 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03209.hp1 NA19240.hp1 others(1): Show |
a0009a0013a0026others(1): Show | a0009c0011a0013c0087a0026c0061others(1): Show | a0009c0011t0006a0013c0087t0040a0026c0061t0004others(1): Show | a0009c0011t0006g0020a0013c0087t0040g0098a0026c0061t0004g0142others(1): Show | 4 | 166 | 0.0241 | 9 | c.894 others(26): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76173496 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01109.hp2 HG01433.hp1 others(3): Show |
a0001a0002a0007others(2): Show | a0001c0001a0002c0017a0007c0072others(2): Show | a0001c0001t0026a0002c0017t0008a0007c0072t0003others(3): Show | a0001c0001t0026g0093a0002c0017t0008g0060a0007c0072t0003g0158others(3): Show | 6 | 166 | 0.0361 | 9 | c.175 others(28): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76190594 | C | CTATAGTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00544.hp2 others(113): Show |
a0001a0002a0003others(36): Show | a0001c0001a0001c0004a0001c0013others(72): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(105): Show | a0001c0001t0002g0097a0001c0001t0003g0155a0001c0001t0003g0156others(113): Show | 116 | 166 | 0.6988 | 9 | c.262 others(26): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76328975 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00639.hp2 others(60): Show |
a0002a0003a0004others(22): Show | a0002c0009a0002c0016a0002c0017others(42): Show | a0002c0009t0007a0002c0009t0025a0002c0009t0038others(57): Show | a0002c0009t0007g0039a0002c0009t0025g0084a0002c0009t0038g0070others(60): Show | 63 | 166 | 0.3795 | 9 | c.457 others(26): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76351533 | G | GAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03130.hp2 NA18906.hp1 |
a0001a0018 | a0001c0013a0018c0069a0018c0089 | a0001c0013t0023a0018c0069t0003a0018c0089t0003 | a0001c0013t0023g0137a0018c0069t0003g0063a0018c0089t0003g0099 | 3 | 166 | 0.0181 | 9 | c.506 others(26): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK6_chr15_101298933_101494707 | 101299836 | A | ACTCTCAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01346.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0002a0001c0007t0002 | a0001c0003t0002g0075a0001c0003t0002g0086a0001c0007t0002g0107 | 3 | 336 | 0.0089 | 9 | c.*54 others(20): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 4096 | chr15 | TogoVar |