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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PJA1_chrX_69155861_69170453 | 69168078 | ACACATTT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 334 | 0.0030 | -12 | c.-27 others(23): Show |
PJA1 | ENSG00000181191.12 | transcript | ENST00000374571.5 | protein_coding | 2626 | chrX | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109340617 | TCCCTCCC others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01106.hp1 HG01261.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017a0002c0002t0001g0141a0002c0002t0001g0152others(4): Show | 7 | 346 | 0.0202 | -12 | c.200 others(31): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109380086 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA18949.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0085 | 1 | 346 | 0.0029 | -12 | c.233 others(27): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109409962 | CGGCGGCG others(5): Show |
C | 5_prime_UTR_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0345 | 1 | 346 | 0.0029 | -12 | c.-22 others(21): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 1/10 | 26530 | chr5 | TogoVar | |||||
PKD1L1_chr7_47769614_47953466 | 47805086 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 |
a0013a0078 | a0013c0076a0078c0125 | a0013c0076t0001a0078c0125t0001 | a0013c0076t0001g0110a0078c0125t0001g0174 | 2 | 306 | 0.0065 | -12 | c.782 others(31): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 52/56 | chr7 | TogoVar | ||||||
PKD1L1_chr7_47769614_47953466 | 47864576 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0100 | 1 | 306 | 0.0033 | -12 | c.414 others(29): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 26/56 | chr7 | TogoVar | ||||||
PKD1L1_chr7_47769614_47953466 | 47928806 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG02451.hp2 HG02559.hp2 others(25): Show |
a0001a0002a0003others(15): Show | a0001c0007a0002c0003a0002c0024others(20): Show | a0001c0007t0001a0002c0003t0001a0002c0024t0001others(20): Show | a0001c0007t0001g0033a0002c0003t0001g0163a0002c0024t0001g0167others(25): Show | 28 | 306 | 0.0915 | -12 | c.106 others(29): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 7/56 | chr7 | TogoVar | ||||||
PKD1L1_chr7_47769614_47953466 | 47943157 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02896.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0008a0001c0068 | a0001c0008t0001a0001c0068t0001 | a0001c0008t0001g0028a0001c0008t0001g0029a0001c0008t0001g0030others(2): Show | 5 | 306 | 0.0163 | -12 | c.160 others(27): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 2/56 | chr7 | TogoVar | ||||||
PKD1L1_chr7_47769614_47953466 | 47943159 | AAAAAATA others(5): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00735.hp1 others(24): Show |
a0001a0002a0005others(10): Show | a0001c0006a0001c0007a0001c0008others(18): Show | a0001c0006t0001a0001c0007t0001a0001c0008t0001others(18): Show | a0001c0006t0001g0051a0001c0006t0001g0101a0001c0007t0001g0100others(24): Show | 27 | 306 | 0.0882 | -12 | c.160 others(27): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 2/56 | chr7 | TogoVar | ||||||
PKD1L1_chr7_47769614_47953466 | 47943161 | AAAATATA others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00738.hp1 others(42): Show |
a0001a0002a0005others(14): Show | a0001c0006a0001c0007a0001c0013others(25): Show | a0001c0006t0001a0001c0007t0001a0001c0013t0001others(26): Show | a0001c0006t0001g0115a0001c0006t0001g0134a0001c0007t0001g0133others(42): Show | 45 | 306 | 0.1471 | -12 | c.160 others(27): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 2/56 | chr7 | TogoVar | ||||||
PKD1L1_chr7_47769614_47953466 | 47943163 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG01106.hp2 NA20805.hp1 |
a0008a0057 | a0008c0081a0057c0089 | a0008c0081t0001a0057c0089t0001 | a0008c0081t0001g0149a0057c0089t0001g0021 | 2 | 306 | 0.0065 | -12 | c.160 others(27): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 2/56 | chr7 | TogoVar | ||||||
PKD1L1_chr7_47769614_47953466 | 47950444 | GCACTCTC others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 | a0086 | a0086c0144 | a0086c0144t0001 | a0086c0144t0001g0291 | 1 | 306 | 0.0033 | -12 | c.-20 others(23): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 1979 | chr7 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71945297 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01109.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0046 | 1 | 308 | 0.0033 | -12 | c.371 others(31): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71945396 | ATATTTAT others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00733.hp1 HG01256.hp2 others(17): Show |
a0005a0017a0035others(1): Show | a0005c0003a0017c0023a0035c0077others(1): Show | a0005c0003t0001a0017c0023t0001a0035c0077t0001others(1): Show | a0005c0003t0001g0148a0005c0003t0001g0150a0005c0003t0001g0151others(17): Show | 20 | 308 | 0.0649 | -12 | c.371 others(31): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71964309 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00673.hp1 others(16): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0004a0004c0009others(4): Show | a0001c0001t0001a0003c0004t0001a0004c0009t0001others(4): Show | a0001c0001t0001g0158a0001c0001t0001g0177a0001c0001t0001g0189others(16): Show | 19 | 308 | 0.0617 | -12 | c.246 others(29): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 15/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71978510 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 308 | 0.0033 | -12 | c.139 others(29): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 9/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71990085 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02818.hp1 HG03225.hp1 |
a0020a0039a0040 | a0020c0055a0039c0054a0040c0056 | a0020c0055t0002a0039c0054t0001a0040c0056t0001 | a0020c0055t0002g0298a0039c0054t0001g0067a0040c0056t0001g0121 | 3 | 308 | 0.0097 | -12 | c.585 others(27): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 4/29 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2088657 | CAGTGAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 216 | 0.0046 | -12 | c.*10 others(23): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 50 | chr16 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100297702 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG02132.hp1 HG02135.hp1 others(2): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0007c0008t0001 | a0001c0001t0001g0077a0001c0001t0001g0113a0001c0001t0001g0156others(2): Show | 5 | 306 | 0.0163 | -12 | c.732 others(26): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 4/15 | chr10 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100313649 | ACTGGGTC others(5): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0220 | 1 | 306 | 0.0033 | -12 | c.350 others(31): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100314962 | AGAAGGAA others(5): Show |
A | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 306 | 0.0033 | -12 | c.349 others(31): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100321663 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01123.hp2 HG01175.hp2 others(17): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0010others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0045a0001c0001t0001g0051a0001c0001t0001g0065others(17): Show | 20 | 306 | 0.0654 | -12 | c.349 others(29): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100321746 | AGAAAGAA others(5): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 306 | 0.0033 | -12 | c.349 others(29): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100321750 | AGAAAGAA others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG03139.hp2 others(1): Show |
a0001a0004a0016 | a0001c0001a0004c0005a0016c0024 | a0001c0001t0001a0004c0005t0001a0016c0024t0001 | a0001c0001t0001g0085a0001c0001t0001g0243a0004c0005t0001g0062others(1): Show | 4 | 306 | 0.0131 | -12 | c.349 others(29): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100321754 | AGAAGGGA others(5): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG02572.hp2 HG03130.hp1 |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0001a0002c0009t0001 | a0001c0001t0001g0259a0001c0001t0001g0273a0002c0009t0001g0161 | 3 | 306 | 0.0098 | -12 | c.349 others(29): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100321756 | AAGGGAGG others(5): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02559.hp1 others(3): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0001a0004c0005t0001 | a0001c0002t0001g0038a0004c0005t0001g0216a0004c0005t0001g0220others(3): Show | 6 | 306 | 0.0196 | -12 | c.349 others(29): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100321800 | GAGGGAGG others(5): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 306 | 0.0033 | -12 | c.349 others(29): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100331938 | TTGGAAAA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02559.hp2 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0002c0009others(2): Show | a0001c0001t0001a0002c0003t0001a0002c0009t0001others(2): Show | a0001c0001t0001g0195a0001c0001t0001g0266a0001c0001t0001g0271others(7): Show | 10 | 306 | 0.0327 | -12 | c.-18 others(23): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 1711 | chr10 | TogoVar | ||||||
PKD2L2_chr5_137884457_137947747 | 137895472 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223a0001c0001t0001g0224 | 2 | 336 | 0.0060 | -12 | c.524 others(27): Show |
PKD2L2 | ENSG00000078795.17 | transcript | ENST00000508883.6 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PKD2L2_chr5_137884457_137947747 | 137897033 | ATATTATT others(5): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG01361.hp2 HG01884.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0015a0001c0001t0001g0110a0001c0001t0001g0216others(3): Show | 7 | 336 | 0.0208 | -12 | c.525 others(29): Show |
PKD2L2 | ENSG00000078795.17 | transcript | ENST00000508883.6 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PKD2L2_chr5_137884457_137947747 | 137910231 | CAATAATA others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127a0001c0001t0001g0149 | 2 | 336 | 0.0060 | -12 | c.132 others(31): Show |
PKD2L2 | ENSG00000078795.17 | transcript | ENST00000508883.6 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PKD2L2_chr5_137884457_137947747 | 137914031 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG01433.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0032a0001c0001t0001g0051others(17): Show | 21 | 336 | 0.0625 | -12 | c.132 others(31): Show |
PKD2L2 | ENSG00000078795.17 | transcript | ENST00000508883.6 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PKD2_chr4_88002635_88082777 | 88070574 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0119 | 2 | 342 | 0.0059 | -12 | c.252 others(31): Show |
PKD2 | ENSG00000118762.8 | transcript | ENST00000237596.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PKHD1L1_chr8_109357461_109542207 | 109389499 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00735.hp1 others(15): Show |
a0001a0003a0014others(1): Show | a0001c0001a0003c0003a0014c0014others(1): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(3): Show | a0001c0001t0002g0256a0001c0001t0007g0262a0001c0001t0010g0190others(15): Show | 18 | 282 | 0.0638 | -12 | c.697 others(27): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PKHD1L1_chr8_109357461_109542207 | 109414961 | CATTATTA others(5): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG01175.hp1 others(41): Show |
a0001a0002a0005others(11): Show | a0001c0001a0002c0002a0005c0005others(12): Show | a0001c0001t0002a0001c0001t0010a0002c0002t0001others(15): Show | a0001c0001t0002g0182a0001c0001t0002g0184a0001c0001t0002g0185others(41): Show | 44 | 282 | 0.1560 | -12 | c.236 others(31): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PKHD1L1_chr8_109357461_109542207 | 109487932 | GGAAGGAA others(5): Show |
G | intron_variant | MODIFIER | HG00741.hp2 | a0021 | a0021c0026 | a0021c0026t0013 | a0021c0026t0013g0130 | 1 | 282 | 0.0036 | -12 | c.988 others(31): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PKHD1_chr6_51610299_52092613 | 51690271 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01074.hp1 others(35): Show |
a0001a0002a0003others(17): Show | a0001c0002a0001c0009a0001c0019others(27): Show | a0001c0002t0001a0001c0002t0009a0001c0009t0001others(29): Show | a0001c0002t0001g0083a0001c0002t0001g0107a0001c0002t0001g0113others(35): Show | 38 | 134 | 0.2836 | -12 | c.101 others(35): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 60/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51777679 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG02896.hp1 HG03471.hp2 |
a0028a0031a0033 | a0028c0071a0031c0057a0033c0059 | a0028c0071t0012a0031c0057t0013a0033c0059t0008 | a0028c0071t0012g0093a0031c0057t0013g0067a0033c0059t0008g0001 | 3 | 134 | 0.0224 | -12 | c.844 others(31): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 53/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51901406 | AAACTATC others(5): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0025 | a0025c0072 | a0025c0072t0001 | a0025c0072t0001g0095 | 1 | 134 | 0.0075 | -12 | c.699 others(31): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 43/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51975963 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0091 | a0002c0091t0007 | a0002c0091t0007g0133 | 1 | 134 | 0.0075 | -12 | c.575 others(33): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 52014694 | CTGGATAG others(5): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01496.hp2 others(10): Show |
a0003a0004a0023 | a0003c0007a0003c0015a0003c0016others(6): Show | a0003c0007t0001a0003c0015t0001a0003c0016t0001others(8): Show | a0003c0007t0001g0037a0003c0007t0001g0043a0003c0015t0001g0041others(10): Show | 13 | 134 | 0.0970 | -12 | c.560 others(31): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 34/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 52014700 | AGATGGAT others(5): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG00741.hp1 others(19): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0002a0001c0009others(16): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0001others(16): Show | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0002t0001g0117others(19): Show | 22 | 134 | 0.1642 | -12 | c.560 others(31): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 34/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 52058771 | CTCTATCT others(5): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0065 | a0002c0065t0007 | a0002c0065t0007g0068 | 1 | 134 | 0.0075 | -12 | c.123 others(29): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 15/66 | chr6 | TogoVar | ||||||
PKIA_chr8_78511340_78610267 | 78524012 | ATATATAA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp2 HG01255.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009a0001c0001t0017others(1): Show | a0001c0001t0008g0020a0001c0001t0008g0021a0001c0001t0009g0018others(2): Show | 5 | 186 | 0.0269 | -12 | c.-15 others(31): Show |
PKIA | ENSG00000171033.13 | transcript | ENST00000396418.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PKIA_chr8_78511340_78610267 | 78536859 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01891.hp2 HG02109.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0013others(4): Show | a0001c0001t0002g0002a0001c0001t0002g0034a0001c0001t0011g0121others(5): Show | 10 | 186 | 0.0538 | -12 | c.-15 others(33): Show |
PKIA | ENSG00000171033.13 | transcript | ENST00000396418.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PKIB_chr6_122605405_122731373 | 122633929 | CCTATCTA others(5): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 312 | 0.0032 | -12 | c.-76 others(27): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PKIB_chr6_122605405_122731373 | 122652292 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0145a0001c0001t0003g0146a0001c0001t0003g0147 | 3 | 312 | 0.0096 | -12 | c.-76 others(31): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PKIB_chr6_122605405_122731373 | 122652324 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG01361.hp2 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0241a0001c0001t0003g0198 | 2 | 312 | 0.0064 | -12 | c.-76 others(31): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
PKIB_chr6_122605405_122731373 | 122662308 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0278 | 1 | 312 | 0.0032 | -12 | c.-75 others(31): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PKIB_chr6_122605405_122731373 | 122670498 | TTTGTTGT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00621.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0022a0001c0001t0001g0023others(19): Show | 23 | 312 | 0.0737 | -12 | c.-75 others(29): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |