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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIR_chrX_15379799_15498333 | 15400729 | A | ATATTTAT others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00597.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 a0001c0002t0001g0078 a0001c0002t0001g0164 |
3 | 272 | 0.0110 | 24 | c.611 others(41): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 7/9 | chrX | TogoVar | |||||||
PIR_chrX_15379799_15498333 | 15483174 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003 | a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0031 others(29): Show |
33 | 272 | 0.1213 | 24 | c.97- others(39): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
PIR_chrX_15379799_15498333 | 15486298 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG01255.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0053 a0001c0001t0001g0058 others(29): Show |
33 | 272 | 0.1213 | 24 | c.96+ others(39): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67413401 | T | TTTTCTTT others(17): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG00741.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0091 a0001c0001t0001g0160 a0001c0001t0001g0162 others(30): Show |
33 | 218 | 0.1514 | 24 | c.48+ others(41): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67425193 | G | GCGCGCGC others(17): Show |
intron_variant | MODIFIER | HG02004.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015 | a0001c0001t0003g0030 a0001c0001t0015g0012 |
2 | 218 | 0.0092 | 24 | c.48+ others(41): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67425193 | G | GCGCGCGC others(17): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0095 | 1 | 218 | 0.0046 | 24 | c.48+ others(41): 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(17): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 218 | 0.0046 | 24 | c.49- others(41): 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(17): Show |
intron_variant | MODIFIER | HG00544.hp2 HG03130.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0004g0191 a0001c0001t0005g0157 a0001c0001t0006g0149 others(2): Show |
5 | 218 | 0.0229 | 24 | c.49- others(41): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67495040 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0130 | 1 | 218 | 0.0046 | 24 | c.49- others(41): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67522659 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02451.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0019a0001c0001t0029others(2): Show | a0001c0001t0005g0169 a0001c0001t0019g0085 a0001c0001t0029g0055 others(2): Show |
5 | 218 | 0.0229 | 24 | c.49- others(41): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67599001 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02970.hp2 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0064 | a0001c0001t0038g0216 a0001c0001t0064g0042 |
2 | 218 | 0.0092 | 24 | c.366 others(43): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67599034 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 | 1 | 218 | 0.0046 | 24 | c.366 others(43): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67629238 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00735.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0079 a0001c0001t0001g0118 a0001c0001t0001g0136 others(13): Show |
16 | 218 | 0.0734 | 24 | c.367 others(41): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67631657 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG02683.hp1 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0023 | a0001c0001t0020g0005 a0001c0001t0023g0115 |
2 | 218 | 0.0092 | 24 | c.367 others(39): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67661994 | C | CATAATAA others(17): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0075 | a0001c0001t0017g0062 a0001c0001t0075g0063 |
2 | 218 | 0.0092 | 24 | c.463 others(41): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67688338 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01891.hp2 HG02056.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0015others(2): Show | a0001c0001t0003g0043 a0001c0001t0010g0199 a0001c0001t0015g0015 others(2): Show |
5 | 218 | 0.0229 | 24 | c.683 others(41): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6491836 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02040.hp1 HG03688.hp1 HG04184.hp1 |
a0001 | a0001c0003 | a0001c0003t0021a0001c0003t0071a0001c0003t0081 | a0001c0003t0021g0158 a0001c0003t0071g0161 a0001c0003t0081g0199 |
3 | 218 | 0.0138 | 24 | c.275 others(41): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4/19 | chr17 | TogoVar | |||||||
PITRM1_chr10_3132728_3177782 | 3171146 | T | TAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0045 | a0001c0045t0002 | a0001c0045t0002g0308 | 1 | 446 | 0.0022 | 24 | c.57- others(37): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1/26 | chr10 | TogoVar | |||||||
PITRM1_chr10_3132728_3177782 | 3174583 | C | CTTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG01123.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0015a0001c0048others(1): Show | a0001c0001t0001a0001c0015t0002a0001c0048t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(12): Show |
19 | 446 | 0.0426 | 24 | c.-18 others(35): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1802 | chr10 | TogoVar | |||||||
PITX1_chr5_135022734_135039228 | 135035889 | C | CCCCCATC others(17): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG02922.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0001 a0001c0001t0012g0014 |
4 | 404 | 0.0099 | 24 | c.-20 others(35): Show |
PITX1 | ENSG00000069011.16 | transcript | ENST00000265340.12 | protein_coding | 1662 | chr5 | TogoVar | |||||||
PIWIL2_chr8_22270316_22362568 | 22351440 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 296 | 0.0034 | 24 | c.240 others(43): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PIWIL3_chr22_24714034_24779720 | 24760780 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02132.hp2 HG03098.hp1 others(2): Show |
a0001a0005a0022 | a0001c0001a0005c0008a0022c0030 | a0001c0001t0001a0005c0008t0001a0022c0030t0001 | a0001c0001t0001g0274 a0001c0001t0001g0275 a0005c0008t0001g0210 others(2): Show |
5 | 386 | 0.0130 | 24 | c.103 others(39): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 2/20 | chr22 | TogoVar | |||||||
PIWIL3_chr22_24714034_24779720 | 24764625 | C | CGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03669.hp1 NA19065.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0240 a0001c0001t0001g0309 a0002c0002t0001g0187 |
3 | 386 | 0.0078 | 24 | c.-22 others(41): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 1/20 | chr22 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109353800 | A | AGATATCT others(17): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028 | 1 | 346 | 0.0029 | 24 | c.176 others(43): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109372905 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01993.hp1 HG04199.hp2 HG04204.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0018 | a0002c0002t0001g0127 a0002c0002t0001g0147 a0002c0002t0001g0305 others(1): Show |
4 | 346 | 0.0116 | 24 | c.128 others(43): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109372923 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0019a0002c0002t0001 | a0001c0001t0001g0195 a0001c0001t0001g0326 a0001c0001t0019g0327 others(1): Show |
4 | 346 | 0.0116 | 24 | c.128 others(43): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47864576 | T | TTTTCTTT others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0052 | a0052c0060 | a0052c0060t0001 | a0052c0060t0001g0104 | 1 | 306 | 0.0033 | 24 | c.414 others(41): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 26/56 | chr7 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47910826 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0060 | a0060c0100 | a0060c0100t0001 | a0060c0100t0001g0170 | 1 | 306 | 0.0033 | 24 | c.122 others(43): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 8/56 | chr7 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71952553 | G | GGCTGGGC others(17): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0165 | 1 | 308 | 0.0033 | 24 | c.300 others(41): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 18/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71952592 | T | TGGGAGGC others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(235): Show |
a0001a0002a0004others(39): Show | a0001c0001a0001c0028a0001c0062others(60): Show | a0001c0001t0001a0001c0028t0001a0001c0062t0001others(63): Show | a0001c0001t0001g0050 a0001c0001t0001g0147 a0001c0001t0001g0157 others(235): Show |
238 | 308 | 0.7727 | 24 | c.300 others(41): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 18/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71952611 | G | GATGGCGG others(17): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0106 | 1 | 308 | 0.0033 | 24 | c.300 others(41): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 18/29 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2088881 | G | GCGCGCGC others(17): Show |
3_prime_UTR_variant | MODIFIER | HG03130.hp2 | a0049 | a0049c0104 | a0049c0104t0020 | a0049c0104t0020g0198 | 1 | 216 | 0.0046 | 24 | c.*84 others(33): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 46/46 | 845 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104928 | G | GGGGAGGA others(17): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0045 | 1 | 216 | 0.0046 | 24 | c.801 others(41): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104933 | G | GGAGGGGA others(17): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0007 | 1 | 216 | 0.0046 | 24 | c.801 others(41): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100306855 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03209.hp2 |
a0004 | a0004c0005a0004c0022 | a0004c0005t0001a0004c0022t0001 | a0004c0005t0001g0222 a0004c0022t0001g0217 |
2 | 306 | 0.0065 | 24 | c.350 others(41): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321663 | A | AAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 306 | 0.0033 | 24 | c.349 others(41): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321756 | A | AAAGAAAG others(17): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0110 | 1 | 306 | 0.0033 | 24 | c.349 others(41): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321890 | G | GGGAAGCA others(17): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02965.hp1 others(1): Show |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0001a0004c0005t0001 | a0002c0003t0001g0002 a0004c0005t0001g0215 a0004c0005t0001g0216 |
4 | 306 | 0.0131 | 24 | c.349 others(41): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321890 | G | GGGAAGGA others(17): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02723.hp2 HG02896.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0063 a0001c0002t0001g0020 a0001c0002t0001g0021 |
3 | 306 | 0.0098 | 24 | c.349 others(41): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321894 | G | GGGAAGCA others(17): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02922.hp2 HG03139.hp2 others(1): Show |
a0004 | a0004c0005a0004c0022 | a0004c0005t0001a0004c0022t0001 | a0004c0005t0001g0062 a0004c0005t0001g0200 a0004c0005t0001g0219 others(1): Show |
4 | 306 | 0.0131 | 24 | c.349 others(41): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321904 | C | CAAGCAAG others(17): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02615.hp2 HG02818.hp1 others(2): Show |
a0001a0005a0006 | a0001c0001a0005c0006a0006c0008 | a0001c0001t0001a0005c0006t0001a0006c0008t0001 | a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 others(2): Show |
5 | 306 | 0.0163 | 24 | c.349 others(41): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2_chr4_88002635_88082777 | 88060441 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0079 | 1 | 342 | 0.0029 | 24 | c.202 others(43): Show |
PKD2 | ENSG00000118762.8 | transcript | ENST00000237596.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PKDCC_chr2_42043021_42063517 | 42047923 | T | TGGAGGCG others(17): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(217): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(56): Show |
220 | 432 | 0.5093 | 24 | c.-27 others(33): Show |
PKDCC | ENSG00000162878.13 | transcript | ENST00000294964.6 | protein_coding | 97 | chr2 | TogoVar | |||||||
PKHD1L1_chr8_109357461_109542207 | 109410726 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03139.hp1 |
a0005 | a0005c0005a0005c0047 | a0005c0005t0005a0005c0047t0005 | a0005c0005t0005g0151 a0005c0047t0005g0258 |
2 | 282 | 0.0071 | 24 | c.208 others(41): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKHD1L1_chr8_109357461_109542207 | 109487890 | G | GAGGAAGG others(17): Show |
intron_variant | MODIFIER | HG00642.hp1 HG06807.hp1 |
a0004a0060 | a0004c0004a0060c0074 | a0004c0004t0001a0060c0074t0013 | a0004c0004t0001g0249 a0060c0074t0013g0024 |
2 | 282 | 0.0071 | 24 | c.988 others(43): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51699920 | A | AGTGTGTA others(17): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00738.hp2 HG01496.hp1 others(4): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0004a0003c0036others(4): Show | a0001c0002t0001a0002c0004t0010a0003c0036t0001others(4): Show | a0001c0002t0001g0117 a0002c0004t0010g0101 a0003c0036t0001g0042 others(4): Show |
7 | 134 | 0.0522 | 24 | c.101 others(47): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 60/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51758014 | A | AAGAGAGA others(17): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 134 | 0.0075 | 24 | c.864 others(43): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 55/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51801639 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG01106.hp2 others(24): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0019a0002c0004others(17): Show | a0001c0002t0001a0001c0002t0009a0001c0019t0001others(20): Show | a0001c0002t0001g0107 a0001c0002t0001g0113 a0001c0002t0009g0099 others(24): Show |
27 | 134 | 0.2015 | 24 | c.830 others(45): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 52/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51903832 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0023 | a0023c0088 | a0023c0088t0006 | a0023c0088t0006g0114 | 1 | 134 | 0.0075 | 24 | c.686 others(41): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 42/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51950220 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0018 | 1 | 134 | 0.0075 | 24 | c.590 others(43): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 36/66 | chr6 | TogoVar |