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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(25): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 NA19054.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003 | 3 | 384 | 0.0078 | 32 | c.*18 others(41): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | ||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(25): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 HG03831.hp2 NA18954.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0069others(1): Show | 4 | 384 | 0.0104 | 32 | c.*18 others(41): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | ||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(25): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0033 | 2 | 384 | 0.0052 | 32 | c.*18 others(41): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | ||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(25): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 384 | 0.0026 | 32 | c.*18 others(41): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | ||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAATA others(25): Show |
downstream_gene_variant | MODIFIER | NA18982.hp2 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0103 | 2 | 384 | 0.0052 | 32 | c.*18 others(41): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | ||||||
PIK3AP1_chr10_96588315_96725514 | 96721919 | G | GCGGATCA others(25): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG01099.hp2 HG01109.hp1 others(36): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0009others(9): Show | a0001c0001t0001a0001c0006t0002a0001c0006t0005others(13): Show | a0001c0001t0001g0019a0001c0001t0001g0025a0001c0001t0001g0203others(36): Show | 39 | 256 | 0.1523 | 32 | c.-15 others(43): Show |
PIK3AP1 | ENSG00000155629.15 | transcript | ENST00000339364.10 | protein_coding | 1406 | chr10 | TogoVar | ||||||
PIK3C2G_chr12_18256518_18653416 | 18303115 | C | CTTCTTTC others(25): Show |
intron_variant | MODIFIER | HG02717.hp2 NA18906.hp1 |
a0001a0005 | a0001c0001a0005c0015 | a0001c0001t0002a0005c0015t0001 | a0001c0001t0002g0011a0005c0015t0001g0010 | 2 | 176 | 0.0114 | 32 | c.103 others(51): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PIK3C2G_chr12_18256518_18653416 | 18395073 | C | CTCTTTCC others(25): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0091 | 1 | 176 | 0.0057 | 32 | c.212 others(51): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 15/32 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PIK3C2G_chr12_18256518_18653416 | 18395084 | C | CTTCTTTC others(25): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0020 | a0002c0020t0001 | a0002c0020t0001g0051 | 1 | 176 | 0.0057 | 32 | c.212 others(51): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 15/32 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PIK3C3_chr18_41950234_42092830 | 42076145 | C | CACATATA others(25): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0123a0001c0001t0021g0124 | 2 | 340 | 0.0059 | 32 | c.265 others(51): Show |
PIK3C3 | ENSG00000078142.14 | transcript | ENST00000262039.9 | protein_coding | 24/24 | chr18 | TogoVar | ||||||
PIK3R3_chr1_46035140_46137629 | 46071730 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03654.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040a0001c0001t0003g0044a0001c0001t0003g0047 | 3 | 318 | 0.0094 | 32 | c.315 others(49): Show |
PIK3R3 | ENSG00000117461.15 | transcript | ENST00000262741.10 | protein_coding | 3/9 | chr1 | TogoVar | ||||||
PIK3R3_chr1_46035140_46137629 | 46071730 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01069.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0006 | a0001c0001t0003g0045a0001c0001t0003g0046a0001c0003t0006g0008others(1): Show | 4 | 318 | 0.0126 | 32 | c.315 others(49): Show |
PIK3R3 | ENSG00000117461.15 | transcript | ENST00000262741.10 | protein_coding | 3/9 | chr1 | TogoVar | ||||||
PIK3R3_chr1_46035140_46137629 | 46071730 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 318 | 0.0031 | 32 | c.315 others(49): Show |
PIK3R3 | ENSG00000117461.15 | transcript | ENST00000262741.10 | protein_coding | 3/9 | chr1 | TogoVar | ||||||
PIK3R3_chr1_46035140_46137629 | 46071730 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 318 | 0.0031 | 32 | c.315 others(49): Show |
PIK3R3 | ENSG00000117461.15 | transcript | ENST00000262741.10 | protein_coding | 3/9 | chr1 | TogoVar | ||||||
PIK3R3_chr1_46035140_46137629 | 46071730 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 318 | 0.0031 | 32 | c.315 others(49): Show |
PIK3R3 | ENSG00000117461.15 | transcript | ENST00000262741.10 | protein_coding | 3/9 | chr1 | TogoVar | ||||||
PIK3R3_chr1_46035140_46137629 | 46071730 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0003 | 1 | 318 | 0.0031 | 32 | c.315 others(49): Show |
PIK3R3 | ENSG00000117461.15 | transcript | ENST00000262741.10 | protein_coding | 3/9 | chr1 | TogoVar | ||||||
PIK3R3_chr1_46035140_46137629 | 46071759 | A | AGAGAGAG others(25): Show |
intron_variant | MODIFIER | NA18986.hp2 NA19082.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0021 | a0001c0001t0005g0024a0001c0001t0005g0025a0001c0001t0021g0022 | 3 | 318 | 0.0094 | 32 | c.315 others(49): Show |
PIK3R3 | ENSG00000117461.15 | transcript | ENST00000262741.10 | protein_coding | 3/9 | chr1 | TogoVar | ||||||
PINX1_chr8_10759961_10844875 | 10833548 | A | AGACGACT others(25): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 352 | 0.0028 | 32 | c.130 others(47): Show |
PINX1 | ENSG00000254093.9 | transcript | ENST00000314787.8 | protein_coding | 2/6 | chr8 | TogoVar | ||||||
PINX1_chr8_10759961_10844875 | 10833582 | G | GACTGGGG others(25): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 352 | 0.0028 | 32 | c.130 others(47): Show |
PINX1 | ENSG00000254093.9 | transcript | ENST00000314787.8 | protein_coding | 2/6 | chr8 | TogoVar | ||||||
PINX1_chr8_10759961_10844875 | 10833614 | A | AACTGGGG others(25): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 NA18939.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0208a0001c0001t0001g0209others(1): Show | 5 | 352 | 0.0142 | 32 | c.130 others(47): Show |
PINX1 | ENSG00000254093.9 | transcript | ENST00000314787.8 | protein_coding | 2/6 | chr8 | TogoVar | ||||||
PIP4K2A_chr10_22529854_22719578 | 22664092 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0003 | a0002c0003t0052 | a0002c0003t0052g0192 | 1 | 206 | 0.0049 | 32 | c.144 others(51): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
PIP5K1B_chr9_68700240_69014176 | 68925795 | A | ATTTTTTT others(25): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02132.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0091a0001c0001t0001g0092 | 3 | 220 | 0.0136 | 32 | c.120 others(51): Show |
PIP5K1B | ENSG00000107242.20 | transcript | ENST00000265382.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67413401 | T | TTTTCTTT others(25): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG01433.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0079a0001c0001t0001g0086a0001c0001t0001g0100others(10): Show | 13 | 218 | 0.0596 | 32 | c.48+ others(49): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67468777 | A | ACCTCTGC others(25): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00597.hp2 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0131a0001c0001t0001g0144a0001c0001t0001g0154others(75): Show | 78 | 218 | 0.3578 | 32 | c.49- others(49): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67494185 | T | TTCTTTCT others(25): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 218 | 0.0046 | 32 | c.49- others(49): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67494185 | T | TTCTTTTT others(25): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01993.hp1 HG02004.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0140a0001c0001t0002g0139a0001c0001t0003g0007others(11): Show | 14 | 218 | 0.0642 | 32 | c.49- others(49): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67629238 | C | CTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0148a0001c0001t0005g0213 | 2 | 218 | 0.0092 | 32 | c.367 others(49): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67688338 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG01358.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0142a0001c0001t0001g0163a0001c0001t0001g0187others(4): Show | 7 | 218 | 0.0321 | 32 | c.683 others(49): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNM3_chr17_6446263_6561555 | 6452692 | A | ACACTCAC others(25): Show |
3_prime_UTR_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0093 | a0001c0001t0093g0192 | 1 | 218 | 0.0046 | 32 | c.*26 others(43): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 20/20 | 2645 | chr17 | TogoVar | |||||
PITPNM3_chr17_6446263_6561555 | 6491836 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG00544.hp2 HG04115.hp1 NA18522.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0011a0001c0003t0076a0001c0003t0095 | a0001c0002t0011g0146a0001c0003t0076g0191a0001c0003t0095g0213 | 3 | 218 | 0.0138 | 32 | c.275 others(49): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4/19 | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6561197 | C | CCCTCCAC others(25): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0005 | a0002c0005t0067 | a0002c0005t0067g0082 | 1 | 218 | 0.0046 | 32 | c.-47 others(43): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4643 | chr17 | TogoVar | ||||||
PITRM1_chr10_3132728_3177782 | 3174583 | C | CTTTTTTT others(25): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02647.hp1 NA19085.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0086a0005c0007t0001g0044a0005c0007t0001g0326 | 3 | 446 | 0.0067 | 32 | c.-18 others(43): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1802 | chr10 | TogoVar | ||||||
PIWIL3_chr22_24714034_24779720 | 24757079 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0350 | 1 | 386 | 0.0026 | 32 | c.356 others(47): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | ||||||
PIWIL3_chr22_24714034_24779720 | 24757669 | C | CACACACA others(25): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02486.hp2 HG02647.hp1 others(2): Show |
a0001a0005 | a0001c0001a0001c0007a0005c0008 | a0001c0001t0002a0001c0007t0001a0005c0008t0002 | a0001c0001t0002g0083a0001c0001t0002g0084a0001c0007t0001g0324others(2): Show | 5 | 386 | 0.0130 | 32 | c.355 others(47): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | ||||||
PIWIL3_chr22_24714034_24779720 | 24757673 | C | CACACACA others(25): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02055.hp1 others(5): Show |
a0001a0005a0009 | a0001c0001a0005c0008a0009c0013 | a0001c0001t0001a0005c0008t0001a0009c0013t0001 | a0001c0001t0001g0367a0005c0008t0001g0210a0005c0008t0001g0318others(5): Show | 8 | 386 | 0.0207 | 32 | c.355 others(47): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | ||||||
PIWIL3_chr22_24714034_24779720 | 24760780 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 386 | 0.0026 | 32 | c.103 others(47): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 2/20 | chr22 | TogoVar | ||||||
PIWIL3_chr22_24714034_24779720 | 24764625 | C | CGTGTGTG others(25): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0350 | 1 | 386 | 0.0026 | 32 | c.-22 others(49): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 1/20 | chr22 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109340617 | T | TCCCTCTC others(25): Show |
intron_variant | MODIFIER | HG02523.hp1 NA18953.hp2 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201a0001c0001t0001g0229a0001c0001t0001g0242 | 3 | 346 | 0.0087 | 32 | c.200 others(51): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109372905 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02630.hp1 NA18998.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0020a0002c0002t0001g0027 | 2 | 346 | 0.0058 | 32 | c.128 others(51): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 4/9 | chr5 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2091315 | C | CCGGGGCG others(25): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp2 others(17): Show |
a0006a0008a0009others(5): Show | a0006c0005a0006c0110a0008c0021others(8): Show | a0006c0005t0004a0006c0110t0004a0008c0021t0005others(8): Show | a0006c0005t0004g0007a0006c0005t0004g0008a0006c0005t0004g0009others(17): Show | 20 | 216 | 0.0926 | 32 | c.117 others(51): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 42/45 | chr16 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100321756 | A | AAAGAAAG others(25): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 306 | 0.0033 | 32 | c.349 others(49): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100321890 | G | GGGAAGGA others(25): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 306 | 0.0033 | 32 | c.349 others(49): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100321894 | G | GGGAAGCA others(25): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02486.hp2 HG02818.hp2 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0004c0005others(2): Show | a0001c0001t0001a0002c0003t0001a0004c0005t0001others(2): Show | a0001c0001t0001g0210a0002c0003t0001g0225a0004c0005t0001g0224others(2): Show | 5 | 306 | 0.0163 | 32 | c.349 others(49): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100321904 | C | CAAGGAAG others(25): Show |
intron_variant | MODIFIER | HG01255.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0299a0001c0001t0002g0003 | 2 | 306 | 0.0065 | 32 | c.349 others(49): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKHD1L1_chr8_109357461_109542207 | 109410726 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0267 | 1 | 282 | 0.0036 | 32 | c.208 others(49): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PKHD1_chr6_51610299_52092613 | 51702149 | T | TATATATT others(25): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02717.hp1 HG02809.hp2 others(2): Show |
a0006a0026a0028others(2): Show | a0006c0011a0026c0073a0028c0071others(2): Show | a0006c0011t0005a0026c0073t0005a0028c0071t0012others(2): Show | a0006c0011t0005g0063a0026c0073t0005g0094a0028c0071t0012g0093others(2): Show | 5 | 134 | 0.0373 | 32 | c.101 others(55): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 60/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51702149 | T | TATATATT others(25): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01496.hp2 HG02155.hp2 others(8): Show |
a0002a0004a0008others(4): Show | a0002c0004a0002c0020a0002c0031others(7): Show | a0002c0004t0003a0002c0020t0003a0002c0031t0003others(8): Show | a0002c0004t0003g0085a0002c0020t0003g0084a0002c0031t0003g0014others(8): Show | 11 | 134 | 0.0821 | 32 | c.101 others(55): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 60/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 52065168 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0079 | a0002c0079t0007 | a0002c0079t0007g0089 | 1 | 134 | 0.0075 | 32 | c.881 others(47): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 12/66 | chr6 | TogoVar | ||||||
PKIA_chr8_78511340_78610267 | 78524083 | A | AATAAACA others(25): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0102 | 1 | 186 | 0.0054 | 32 | c.-15 others(51): Show |
PKIA | ENSG00000171033.13 | transcript | ENST00000396418.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PKIA_chr8_78511340_78610267 | 78602694 | A | AATATATA others(25): Show |
3_prime_UTR_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0128 | 1 | 186 | 0.0054 | 32 | c.*89 others(41): Show |
PKIA | ENSG00000171033.13 | transcript | ENST00000396418.7 | protein_coding | 4/4 | 894 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |