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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIP4K2A_chr10_22529854_22719578 | 22549838 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(41): Show |
a0002 | a0002c0003a0002c0004a0002c0006 | a0002c0003t0003a0002c0003t0007a0002c0003t0009others(16): Show | a0002c0003t0003g0112 a0002c0003t0003g0113 a0002c0003t0003g0116 others(41): Show |
44 | 206 | 0.2136 | -18 | c.792 others(33): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 7/9 | chr10 | TogoVar | |||||||
PIP4K2A_chr10_22529854_22719578 | 22667865 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0001a0002c0003t0003a0002c0003t0007others(10): Show | a0001c0001t0001g0097 a0002c0003t0003g0112 a0002c0003t0003g0113 others(19): Show |
22 | 206 | 0.1068 | -18 | c.144 others(37): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
PIP5K1B_chr9_68700240_69014176 | 68705620 | GCCCTCCC others(11): Show |
G | 5_prime_UTR_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0126 | 1 | 220 | 0.0046 | -18 | c.-37 others(27): Show |
PIP5K1B | ENSG00000107242.20 | transcript | ENST00000265382.8 | protein_coding | 1/16 | 116963 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PIP5K1B_chr9_68700240_69014176 | 68723181 | AGAGAGAG others(11): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00597.hp2 others(67): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(67): Show |
70 | 220 | 0.3182 | -18 | c.-24 others(39): Show |
PIP5K1B | ENSG00000107242.20 | transcript | ENST00000265382.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PIP5K1B_chr9_68700240_69014176 | 68992839 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01169.hp2 others(34): Show |
a0001a0003a0004 | a0001c0001a0003c0006a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0016 others(34): Show |
37 | 220 | 0.1682 | -18 | c.162 others(37): Show |
PIP5K1B | ENSG00000107242.20 | transcript | ENST00000265382.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3687498 | CGCACACA others(11): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG03579.hp2 |
a0001 | a0001c0033a0001c0034 | a0001c0033t0005a0001c0034t0026 | a0001c0033t0005g0324 a0001c0034t0026g0323 |
2 | 332 | 0.0060 | -18 | c.94+ others(35): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
PIPOX_chr17_29038141_29062216 | 29039609 | CATACATA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02647.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0043 a0001c0001t0006g0013 |
2 | 396 | 0.0051 | -18 | c.-36 others(29): Show |
PIPOX | ENSG00000179761.12 | transcript | ENST00000323372.9 | protein_coding | 3531 | chr17 | TogoVar | |||||||
PIPOX_chr17_29038141_29062216 | 29039613 | CATATATA others(11): Show |
C | upstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 396 | 0.0025 | -18 | c.-36 others(29): Show |
PIPOX | ENSG00000179761.12 | transcript | ENST00000323372.9 | protein_coding | 3527 | chr17 | TogoVar | |||||||
PIP_chr7_143127077_143144739 | 143134183 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00735.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0040 others(2): Show |
12 | 340 | 0.0353 | -18 | c.96- others(31): Show |
PIP | ENSG00000159763.4 | transcript | ENST00000291009.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PIR_chrX_15379799_15498333 | 15387068 | CTTTTCTT others(11): Show |
C | intron_variant | MODIFIER | HG03486.hp2 NA18978.hp2 |
a0001a0007 | a0001c0002a0007c0005 | a0001c0002t0001a0007c0005t0007 | a0001c0002t0001g0129 a0007c0005t0007g0270 |
2 | 272 | 0.0074 | -18 | c.761 others(35): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 9/9 | chrX | TogoVar | |||||||
PIR_chrX_15379799_15498333 | 15433530 | AAGAAAGA others(11): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG01070.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0072 a0001c0001t0001g0101 a0001c0001t0001g0103 others(23): Show |
26 | 272 | 0.0956 | -18 | c.481 others(35): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 5/9 | chrX | TogoVar | |||||||
PISD_chr22_31613491_31667215 | 31637125 | AAATAATA others(11): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0033 | 1 | 328 | 0.0031 | -18 | c.321 others(37): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
PISD_chr22_31613491_31667215 | 31637156 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG00673.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0045 a0001c0001t0004g0047 |
2 | 328 | 0.0061 | -18 | c.321 others(37): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
PISD_chr22_31613491_31667215 | 31637158 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02148.hp1 HG02486.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0043 a0001c0001t0002g0035 a0001c0001t0002g0038 others(2): Show |
5 | 328 | 0.0152 | -18 | c.321 others(37): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
PISD_chr22_31613491_31667215 | 31637162 | AAAATATA others(11): Show |
A | intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 328 | 0.0031 | -18 | c.321 others(37): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67373892 | GATATATA others(11): Show |
G | upstream_gene_variant | MODIFIER | HG02818.hp2 HG02922.hp2 HG06807.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0032a0001c0001t0033a0001c0002t0018 | a0001c0001t0032g0050 a0001c0001t0033g0057 a0001c0002t0018g0056 |
3 | 218 | 0.0138 | -18 | c.-42 others(29): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 3388 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67378845 | GGGGAGCG others(11): Show |
G | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 218 | 0.0046 | -18 | c.48+ others(31): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67425197 | GCACACGC others(11): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG02970.hp2 HG03490.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0033others(1): Show | a0001c0001t0001g0162 a0001c0001t0007g0177 a0001c0001t0033g0057 others(1): Show |
4 | 218 | 0.0184 | -18 | c.48+ others(35): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67442204 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 218 | 0.0046 | -18 | c.48+ others(35): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67490112 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG02818.hp1 HG03041.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0009others(2): Show | a0001c0001t0005g0110 a0001c0001t0006g0176 a0001c0001t0009g0194 others(2): Show |
5 | 218 | 0.0229 | -18 | c.49- others(35): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67504750 | GTTAATTA others(11): Show |
G | intron_variant | MODIFIER | HG02970.hp2 NA18956.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0038 | a0001c0001t0010g0167 a0001c0001t0038g0216 |
2 | 218 | 0.0092 | -18 | c.49- others(35): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67513353 | GTATCTAT others(11): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0155 a0001c0001t0002g0150 |
2 | 218 | 0.0092 | -18 | c.49- others(35): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67546175 | TCAAAAAC others(11): Show |
T | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0057 | 1 | 218 | 0.0046 | -18 | c.198 others(35): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67583863 | TTTTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG02148.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0063a0001c0001t0070 | a0001c0001t0002g0189 a0001c0001t0063g0037 a0001c0001t0070g0032 |
3 | 218 | 0.0138 | -18 | c.366 others(35): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67583879 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG03195.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0071 | a0001c0001t0029g0055 a0001c0001t0071g0069 |
2 | 218 | 0.0092 | -18 | c.366 others(35): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67599022 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG02109.hp1 HG02486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010a0001c0001t0041others(2): Show | a0001c0001t0008g0168 a0001c0001t0010g0114 a0001c0001t0041g0215 others(2): Show |
5 | 218 | 0.0229 | -18 | c.366 others(37): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNM2_chr12_122978480_123156090 | 123034487 | TGACCCAC others(11): Show |
T | splice_region_variant others(1): Show |
LOW | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0200 | 1 | 230 | 0.0044 | -18 | c.78+ others(28): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 3/25 | chr12 | TogoVar | |||||||
PITPNM2_chr12_122978480_123156090 | 123067453 | TCACACAC others(11): Show |
T | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 230 | 0.0044 | -18 | c.-95 others(37): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 2/25 | chr12 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6452943 | GCTCTCTC others(11): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01099.hp1 HG01346.hp2 HG01943.hp1 |
a0001 | a0001c0003 | a0001c0003t0030a0001c0003t0077 | a0001c0003t0030g0069 a0001c0003t0030g0070 a0001c0003t0077g0090 |
3 | 218 | 0.0138 | -18 | c.*23 others(29): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 20/20 | 2377 | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6481853 | TAGAGAGA others(11): Show |
T | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0133 | 1 | 218 | 0.0046 | -18 | c.587 others(35): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 6/19 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6481985 | CCTCTCTC others(11): Show |
C | intron_variant | MODIFIER | NA18969.hp2 NA19088.hp2 |
a0002 | a0002c0004 | a0002c0004t0008a0002c0004t0043 | a0002c0004t0008g0135 a0002c0004t0043g0079 |
2 | 218 | 0.0092 | -18 | c.587 others(35): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 6/19 | chr17 | TogoVar | |||||||
PITRM1_chr10_3132728_3177782 | 3168915 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(77): Show |
a0001 | a0001c0002a0001c0013a0001c0029others(6): Show | a0001c0002t0001a0001c0013t0001a0001c0029t0001others(6): Show | a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 others(45): Show |
80 | 446 | 0.1794 | -18 | c.159 others(35): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 2/26 | chr10 | TogoVar | |||||||
PITRM1_chr10_3132728_3177782 | 3171146 | TTAAAAAA others(11): Show |
T | intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 446 | 0.0022 | -18 | c.57- others(31): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1/26 | chr10 | TogoVar | |||||||
PITX1_chr5_135022734_135039228 | 135035889 | CCCCCATC others(11): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG00741.hp2 others(59): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0008a0001c0003t0019others(4): Show | a0001c0003t0004g0004 a0001c0003t0004g0042 a0001c0003t0004g0058 others(7): Show |
62 | 404 | 0.1535 | -18 | c.-20 others(29): Show |
PITX1 | ENSG00000069011.16 | transcript | ENST00000265340.12 | protein_coding | 1662 | chr5 | TogoVar | |||||||
PIWIL1_chr12_130332887_130377637 | 130372597 | CAAAAAAA others(11): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 NA19043.hp1 |
a0001 | a0001c0002 | a0001c0002t0031 | a0001c0002t0031g0062 a0001c0002t0031g0073 |
2 | 425 | 0.0047 | -18 | c.*96 others(27): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 21/21 | 967 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PIWIL2_chr8_22270316_22362568 | 22351436 | CATACATA others(11): Show |
C | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0284 | 1 | 296 | 0.0034 | -18 | c.240 others(37): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PIWIL3_chr22_24714034_24779720 | 24761408 | CCAACTAA others(11): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG01070.hp1 others(72): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0002a0001c0007t0002a0002c0002t0004others(9): Show | a0001c0001t0002g0035 a0001c0001t0002g0073 a0001c0007t0002g0074 others(69): Show |
75 | 386 | 0.1943 | -18 | c.102 others(33): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 2/20 | chr22 | TogoVar | |||||||
PIWIL4_chr11_94562368_94626421 | 94619155 | TGATCCTT others(11): Show |
T | intron_variant | MODIFIER | HG03516.hp2 NA19030.hp1 |
a0001a0002 | a0001c0038a0002c0002 | a0001c0038t0001a0002c0002t0001 | a0001c0038t0001g0103 a0002c0002t0001g0132 |
2 | 384 | 0.0052 | -18 | c.216 others(35): Show |
PIWIL4 | ENSG00000134627.12 | transcript | ENST00000299001.11 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109340617 | TCCCTCCC others(11): Show |
T | intron_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0131 | 1 | 346 | 0.0029 | -18 | c.200 others(37): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47781391 | TTTTTTTT others(11): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(69): Show |
a0001a0002a0003others(21): Show | a0001c0006a0001c0007a0001c0037others(40): Show | a0001c0006t0001a0001c0007t0001a0001c0037t0001others(40): Show | a0001c0006t0001g0051 a0001c0006t0001g0101 a0001c0006t0001g0109 others(69): Show |
72 | 306 | 0.2353 | -18 | c.852 others(37): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 56/56 | chr7 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47880247 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | NA19080.hp2 | a0086 | a0086c0089 | a0086c0089t0001 | a0086c0089t0001g0095 | 1 | 306 | 0.0033 | -18 | c.352 others(35): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 21/56 | chr7 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71945303 | TATACACA others(11): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG01256.hp2 others(19): Show |
a0002a0004a0005others(7): Show | a0002c0002a0004c0005a0005c0003others(7): Show | a0002c0002t0001a0004c0005t0001a0004c0005t0004others(8): Show | a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0070 others(19): Show |
22 | 308 | 0.0714 | -18 | c.371 others(37): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71951666 | AACTCCAT others(11): Show |
A | conservative_inframe_deletion | MODERATE | HG02895.hp1 | a0013 | a0013c0095 | a0013c0095t0001 | a0013c0095t0001g0291 | 1 | 308 | 0.0033 | -18 | c.307 others(27): Show |
p.Glu others(15): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 19/30 | 3511/5623 | 3070/5199 | 1024/1732 | chr16 | TogoVar | |||
PKD1L3_chr16_71924538_72005402 | 71964309 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | NA19066.hp1 | a0016 | a0016c0014 | a0016c0014t0001 | a0016c0014t0001g0255 | 1 | 308 | 0.0033 | -18 | c.246 others(35): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 15/29 | chr16 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100315001 | AGGAAGGA others(11): Show |
A | intron_variant | MODIFIER | NA18964.hp2 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0158 |
2 | 306 | 0.0065 | -18 | c.349 others(37): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L2_chr5_137884457_137947747 | 137914031 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG03017.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0113 a0002c0002t0001g0126 a0002c0002t0001g0307 |
3 | 336 | 0.0089 | -18 | c.132 others(37): Show |
PKD2L2 | ENSG00000078795.17 | transcript | ENST00000508883.6 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PKHD1L1_chr8_109357461_109542207 | 109414961 | CATTATTA others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(21): Show |
a0003a0013a0017others(3): Show | a0003c0003a0013c0014a0017c0018others(3): Show | a0003c0003t0003a0003c0003t0015a0013c0014t0003others(4): Show | a0003c0003t0003g0001 a0003c0003t0003g0153 a0003c0003t0003g0155 others(19): Show |
24 | 282 | 0.0851 | -18 | c.236 others(37): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51777679 | GAAAAAAA others(11): Show |
G | intron_variant | MODIFIER | HG03041.hp2 NA18989.hp1 |
a0008a0033 | a0008c0003a0033c0062 | a0008c0003t0001a0033c0062t0002 | a0008c0003t0001g0011 a0033c0062t0002g0065 |
2 | 134 | 0.0149 | -18 | c.844 others(37): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 53/66 | chr6 | TogoVar | |||||||
PKIA_chr8_78511340_78610267 | 78536859 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0005 a0001c0001t0001g0083 a0001c0001t0001g0132 others(3): Show |
7 | 186 | 0.0376 | -18 | c.-15 others(39): Show |
PKIA | ENSG00000171033.13 | transcript | ENST00000396418.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKIB_chr6_122605405_122731373 | 122652292 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01255.hp2 HG01358.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0043 |
3 | 312 | 0.0096 | -18 | c.-76 others(37): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |