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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIM1_chr6_37165152_37180428 | 37179366 | A | ATATATAT | downstream_gene_variant | MODIFIER | HG01081.hp1 HG02055.hp1 HG02056.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0002g0013 |
10 | 391 | 0.0256 | 7 | c.*52 others(18): Show |
PIM1 | ENSG00000137193.14 | transcript | ENST00000373509.6 | protein_coding | 3939 | chr6 | TogoVar | |||||||
PIMREG_chr17_6439455_6456469 | 6448282 | C | CAAAAAAA | intron_variant | MODIFIER | HG02135.hp1 HG02895.hp1 HG02896.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0053 a0001c0001t0001g0069 others(1): Show |
8 | 42 | 0.1905 | 7 | c.590 others(22): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PIN4_chrX_72176757_72203340 | 72185147 | C | CAAAAAAA | intron_variant | MODIFIER | HG00738.hp1 HG01346.hp2 HG02451.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0051 others(4): Show |
27 | 45 | 0.6000 | 7 | c.44- others(22): Show |
PIN4 | ENSG00000102309.15 | transcript | ENST00000373669.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PINLYP_chr19_43570801_43587098 | 43577303 | A | AGAGAGAG | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp2 HG01074.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0009 a0001c0001t0004g0012 a0001c0001t0004g0015 others(3): Show |
19 | 448 | 0.0424 | 7 | c.70+ others(18): Show |
PINLYP | ENSG00000234465.11 | transcript | ENST00000599207.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PIP4K2A_chr10_22529854_22719578 | 22596205 | C | CAAAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG03041.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0020a0001c0002t0001a0001c0008t0006others(1): Show | a0001c0001t0020g0174 a0001c0002t0001g0025 a0001c0008t0006g0088 others(3): Show |
6 | 13 | 0.4615 | 7 | c.340 others(24): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
PIP4K2A_chr10_22529854_22719578 | 22714686 | T | TGCGGGGC | upstream_gene_variant | MODIFIER | HG01934.hp1 HG01981.hp2 HG03669.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0020 | a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0002g0141 others(2): Show |
5 | 204 | 0.0245 | 7 | c.-36 others(16): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 109 | chr10 | TogoVar | |||||||
PIP4K2A_chr10_22529854_22719578 | 22716442 | A | ACACACAC | upstream_gene_variant | MODIFIER | HG02717.hp2 HG02809.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0027a0001c0005t0002 | a0001c0002t0027g0018 a0001c0005t0002g0032 |
2 | 188 | 0.0106 | 7 | c.-21 others(18): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 1865 | chr10 | TogoVar | |||||||
PIP4K2A_chr10_22529854_22719578 | 22716449 | C | CACACACA | upstream_gene_variant | MODIFIER | HG02451.hp1 HG03486.hp2 |
a0001 | a0001c0002 | a0001c0002t0034a0001c0002t0054 | a0001c0002t0034g0019 a0001c0002t0054g0072 |
2 | 179 | 0.0112 | 7 | c.-21 others(18): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 1872 | chr10 | TogoVar | |||||||
PIP4K2B_chr17_38760691_38804556 | 38791406 | A | ATTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00738.hp2 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0001g0075 a0001c0001t0001g0102 a0001c0001t0001g0126 others(37): Show |
45 | 175 | 0.2571 | 7 | c.160 others(24): Show |
PIP4K2B | ENSG00000276293.5 | transcript | ENST00000619039.5 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
PIP4K2C_chr12_57586192_57608418 | 57590087 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01978.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0009 a0002c0004t0001g0004 a0002c0004t0001g0020 others(2): Show |
21 | 196 | 0.1071 | 7 | c.-12 others(18): Show |
PIP4K2C | ENSG00000166908.18 | transcript | ENST00000354947.10 | protein_coding | 1104 | chr12 | TogoVar | |||||||
PIP5K1A_chr1_151193552_151254531 | 151195884 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01123.hp1 HG01175.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0152 a0001c0001t0001g0195 others(20): Show |
23 | 28 | 0.8214 | 7 | c.-31 others(18): Show |
PIP5K1A | ENSG00000143398.20 | transcript | ENST00000368888.9 | protein_coding | 2667 | chr1 | TogoVar | |||||||
PIP5K1A_chr1_151193552_151254531 | 151251260 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0003 | a0001c0001t0005g0165 a0001c0001t0005g0166 a0001c0002t0003g0097 others(3): Show |
6 | 34 | 0.1765 | 7 | c.*33 others(18): Show |
PIP5K1A | ENSG00000143398.20 | transcript | ENST00000368888.9 | protein_coding | 1730 | chr1 | TogoVar | |||||||
PIP5KL1_chr9_127915881_127935777 | 127932253 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG02071.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0002a0004c0003t0002 | a0001c0001t0002g0005 a0001c0001t0002g0072 a0001c0001t0002g0073 others(2): Show |
8 | 99 | 0.0808 | 7 | c.-15 others(18): Show |
PIP5KL1 | ENSG00000167103.12 | transcript | ENST00000388747.9 | protein_coding | 1477 | chr9 | TogoVar | |||||||
PIRT_chr17_10817470_10843087 | 10843009 | A | ATTTTCTT | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01106.hp2 HG01123.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008 | a0001c0001t0005g0018 a0001c0001t0005g0026 a0001c0001t0005g0063 others(4): Show |
9 | 444 | 0.0203 | 7 | c.-52 others(18): Show |
PIRT | ENSG00000233670.7 | transcript | ENST00000580256.3 | protein_coding | 4923 | chr17 | TogoVar | |||||||
PIR_chrX_15379799_15498333 | 15425411 | C | CTTTTTTT | intron_variant | MODIFIER | HG01106.hp1 HG02293.hp2 HG02630.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 others(6): Show |
9 | 248 | 0.0363 | 7 | c.565 others(22): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 6/9 | chrX | TogoVar | |||||||
PISD_chr22_31613491_31667215 | 31640880 | G | GTTTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01891.hp2 HG01993.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0021 | a0001c0001t0005g0082 a0001c0001t0005g0083 a0001c0001t0005g0115 others(9): Show |
12 | 20 | 0.6000 | 7 | c.321 others(24): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
PITPNA_chr17_1512718_1567792 | 1529155 | A | AGAGAGAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(167): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(149): Show |
170 | 295 | 0.5763 | 7 | c.768 others(24): Show |
PITPNA | ENSG00000174238.16 | transcript | ENST00000313486.12 | protein_coding | 10/11 | chr17 | TogoVar | |||||||
PITPNA_chr17_1512718_1567792 | 1554484 | T | TCTCCTGC | intron_variant | MODIFIER | HG03041.hp2 HG03491.hp1 HG03710.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0033 a0001c0001t0001g0104 a0001c0001t0001g0183 others(1): Show |
4 | 366 | 0.0109 | 7 | c.52- others(22): Show |
PITPNA | ENSG00000174238.16 | transcript | ENST00000313486.12 | protein_coding | 2/11 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67403218 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0081 a0001c0001t0001g0123 a0001c0001t0001g0154 others(22): Show |
25 | 62 | 0.4032 | 7 | c.48+ others(24): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67457367 | C | CTGTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0082 a0001c0001t0001g0163 a0001c0001t0002g0139 others(15): Show |
18 | 200 | 0.0900 | 7 | c.49- others(24): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67495040 | G | GTTTTTTT | intron_variant | MODIFIER | HG01928.hp2 HG02165.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0013others(2): Show | a0001c0001t0002g0116 a0001c0001t0011g0122 a0001c0001t0013g0120 others(2): Show |
5 | 123 | 0.0407 | 7 | c.49- others(24): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67631649 | A | ATATATAT | intron_variant | MODIFIER | HG00558.hp1 HG02258.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0018 | a0001c0001t0001g0081 a0001c0001t0006g0149 a0001c0001t0018g0059 |
3 | 138 | 0.0217 | 7 | c.367 others(22): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67631653 | A | ATATATAT | intron_variant | MODIFIER | HG00639.hp2 HG02165.hp2 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0019 | a0001c0001t0003g0036 a0001c0001t0011g0122 a0001c0001t0019g0085 |
3 | 108 | 0.0278 | 7 | c.367 others(22): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67631655 | A | ATATATAT | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG01167.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0123 a0001c0001t0001g0200 a0001c0001t0001g0201 others(7): Show |
10 | 83 | 0.1205 | 7 | c.367 others(22): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67631657 | A | AAATATAT | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01433.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0086 a0001c0001t0003g0006 a0001c0001t0003g0038 others(9): Show |
12 | 23 | 0.5217 | 7 | c.367 others(22): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67631657 | A | ATATATAT | intron_variant | MODIFIER | HG00741.hp2 HG01361.hp2 HG01934.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0098 a0001c0001t0001g0127 a0001c0001t0001g0171 others(14): Show |
17 | 28 | 0.6071 | 7 | c.367 others(22): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67647463 | G | GTTTTTTT | intron_variant | MODIFIER | HG02970.hp1 HG03579.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0104 a0001c0001t0013g0083 a0001c0001t0013g0197 |
3 | 176 | 0.0170 | 7 | c.462 others(26): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 6/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67667490 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG02257.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0016others(1): Show | a0001c0001t0001g0154 a0001c0001t0001g0195 a0001c0001t0008g0214 others(2): Show |
5 | 57 | 0.0877 | 7 | c.463 others(24): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6448282 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG02074.hp2 HG02135.hp2 HG02976.hp1 others(2): Show |
a0001a0002a0007 | a0001c0001a0002c0004a0007c0017 | a0001c0001t0020a0001c0001t0048a0001c0001t0066others(2): Show | a0001c0001t0020g0077 a0001c0001t0048g0063 a0001c0001t0066g0075 others(2): Show |
5 | 31 | 0.1613 | 7 | c.*70 others(18): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 2980 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6557760 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG01361.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0014others(7): Show | a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0193 others(12): Show |
15 | 72 | 0.2083 | 7 | c.-13 others(18): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 1206 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6561364 | C | CTCCTCCT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01993.hp2 HG03130.hp2 |
a0001a0002a0004 | a0001c0002a0002c0009a0004c0013 | a0001c0002t0044a0002c0009t0007a0004c0013t0002 | a0001c0002t0044g0102 a0002c0009t0007g0112 a0004c0013t0002g0106 |
3 | 210 | 0.0143 | 7 | c.-49 others(18): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4810 | chr17 | TogoVar | |||||||
PITRM1_chr10_3132728_3177782 | 3174583 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(92): Show |
a0001a0002a0003others(8): Show | a0001c0005a0001c0021a0002c0003others(13): Show | a0001c0005t0002a0001c0021t0001a0002c0003t0001others(14): Show | a0001c0005t0002g0052 a0001c0021t0001g0066 a0002c0003t0001g0006 others(65): Show |
95 | 101 | 0.9406 | 7 | c.-18 others(18): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1802 | chr10 | TogoVar | |||||||
PIWIL4_chr11_94562368_94626421 | 94594465 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG02886.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0031 a0001c0003t0002g0060 a0001c0003t0002g0147 |
4 | 321 | 0.0125 | 7 | c.115 others(24): Show |
PIWIL4 | ENSG00000134627.12 | transcript | ENST00000299001.11 | protein_coding | 9/19 | chr11 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109372905 | C | CAAAAAAA | intron_variant | MODIFIER | HG01168.hp2 HG01243.hp2 HG01358.hp2 others(10): Show |
a0001a0002a0004 | a0001c0006a0002c0002a0004c0005 | a0001c0006t0001a0002c0002t0001a0002c0002t0016others(1): Show | a0001c0006t0001g0039 a0001c0006t0001g0040 a0002c0002t0001g0137 others(10): Show |
13 | 38 | 0.3421 | 7 | c.128 others(26): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47880285 | T | TATATATA | intron_variant | MODIFIER | HG01981.hp1 HG03669.hp1 HG04115.hp2 others(1): Show |
a0001a0007a0071 | a0001c0033a0007c0041a0071c0160 | a0001c0033t0001a0007c0041t0001a0071c0160t0001 | a0001c0033t0001g0129 a0007c0041t0001g0030 a0007c0041t0001g0142 others(1): Show |
4 | 294 | 0.0136 | 7 | c.352 others(24): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 21/56 | chr7 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47901341 | A | AGAAAAAG | intron_variant | MODIFIER | HG02717.hp1 HG02922.hp1 HG03471.hp2 others(3): Show |
a0009a0060a0067others(1): Show | a0009c0046a0009c0099a0060c0100others(2): Show | a0009c0046t0002a0009c0099t0001a0060c0100t0001others(2): Show | a0009c0046t0002g0170 a0009c0046t0002g0299 a0009c0099t0001g0168 others(3): Show |
6 | 304 | 0.0197 | 7 | c.206 others(26): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 13/56 | chr7 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71948803 | T | TAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG01109.hp1 HG01891.hp2 others(17): Show |
a0001a0002a0004others(4): Show | a0001c0068a0002c0002a0004c0009others(4): Show | a0001c0068t0001a0002c0002t0001a0004c0009t0001others(4): Show | a0001c0068t0001g0210 a0002c0002t0001g0051 a0002c0002t0001g0062 others(17): Show |
20 | 34 | 0.5882 | 7 | c.361 others(24): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 21/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71977560 | C | CTTCCTCT | intron_variant | MODIFIER | HG01891.hp1 HG02886.hp2 HG02895.hp1 others(3): Show |
a0014a0024 | a0014c0081a0014c0082a0014c0083others(3): Show | a0014c0081t0001a0014c0082t0001a0014c0083t0001others(3): Show | a0014c0081t0001g0292 a0014c0082t0001g0289 a0014c0083t0001g0288 others(3): Show |
6 | 298 | 0.0201 | 7 | c.152 others(22): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 10/29 | chr16 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51859525 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00741.hp2 HG01175.hp2 others(8): Show |
a0001a0002a0003others(5): Show | a0001c0083a0002c0005a0002c0080others(6): Show | a0001c0083t0001a0002c0005t0002a0002c0080t0002others(6): Show | a0001c0083t0001g0125 a0002c0005t0002g0018 a0002c0080t0002g0121 others(8): Show |
11 | 32 | 0.3438 | 7 | c.773 others(26): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 48/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51982875 | T | TAAAAATA | intron_variant | MODIFIER | HG00423.hp2 HG02015.hp1 HG04184.hp2 others(8): Show |
a0002a0003a0004others(3): Show | a0002c0031a0003c0012a0004c0014others(5): Show | a0002c0031t0003a0003c0012t0001a0004c0014t0004others(5): Show | a0002c0031t0003g0014 a0003c0012t0001g0032 a0004c0014t0004g0033 others(8): Show |
11 | 105 | 0.1048 | 7 | c.575 others(28): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKIB_chr6_122605405_122731373 | 122662308 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 others(31): Show |
34 | 44 | 0.7727 | 7 | c.-75 others(26): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PKN1_chr19_14428306_14476859 | 14430003 | G | GTTTTTTT | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00609.hp1 others(10): Show |
a0002a0003a0004others(1): Show | a0002c0001a0003c0003a0004c0008others(1): Show | a0002c0001t0001a0002c0001t0003a0003c0003t0001others(2): Show | a0002c0001t0001g0155 a0002c0001t0001g0256 a0002c0001t0001g0261 others(10): Show |
13 | 264 | 0.0492 | 7 | c.-35 others(18): Show |
PKN1 | ENSG00000123143.13 | transcript | ENST00000242783.11 | protein_coding | 3302 | chr19 | TogoVar | |||||||
PKN2_chr1_88679273_88841255 | 88826347 | T | TTGCCAAA | intron_variant | MODIFIER | HG00621.hp1 HG01109.hp2 HG01167.hp1 others(43): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0003a0001c0004t0006a0001c0004t0007others(8): Show | a0001c0004t0003g0316 a0001c0004t0003g0317 a0001c0004t0003g0318 others(43): Show |
46 | 328 | 0.1402 | 7 | c.241 others(26): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PKN3_chr9_128697503_128725916 | 128701941 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02698.hp2 HG03017.hp1 others(6): Show |
a0001a0011 | a0001c0001a0001c0002a0011c0023 | a0001c0001t0001a0001c0002t0001a0011c0023t0001 | a0001c0001t0001g0008 a0001c0001t0001g0077 a0001c0001t0001g0080 others(6): Show |
9 | 16 | 0.5625 | 7 | c.-97 others(16): Show |
PKN3 | ENSG00000160447.7 | transcript | ENST00000291906.5 | protein_coding | 561 | chr9 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 42975052 | C | CGGGGGCG | intron_variant | MODIFIER | HG01515.hp1 HG02056.hp2 HG02738.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0004g0272 others(3): Show |
6 | 356 | 0.0169 | 7 | c.-57 others(22): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 43029424 | G | GTTTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG00738.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0019a0001c0001t0032a0001c0002t0003others(7): Show | a0001c0001t0019g0286 a0001c0001t0032g0290 a0001c0002t0003g0300 others(30): Show |
33 | 41 | 0.8049 | 7 | c.110 others(24): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX2_chr11_125159751_125438389 | 125411510 | C | CTCTCTCT | intron_variant | MODIFIER | HG01261.hp2 HG03486.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0005 | a0001c0001t0001g0108 a0001c0005t0005g0194 |
2 | 215 | 0.0093 | 7 | c.817 others(22): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 9/12 | chr11 | TogoVar | |||||||
PKP2_chr12_32785755_32901777 | 32797445 | C | CAAAAAAA | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01261.hp1 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0002g0130 a0001c0001t0003g0186 a0001c0001t0005g0089 others(18): Show |
21 | 71 | 0.2958 | 7 | c.216 others(26): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 10/12 | chr12 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401787 | C | CCCGCTCA | intron_variant | MODIFIER | HG01981.hp1 HG02273.hp1 HG02735.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0130 a0001c0003t0001g0111 a0001c0003t0001g0112 others(1): Show |
4 | 196 | 0.0204 | 7 | c.173 others(26): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401789 | C | CGCTCACA | intron_variant | MODIFIER | HG00609.hp1 HG01256.hp1 HG02165.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0028 a0001c0002t0001g0145 a0001c0002t0001g0146 others(5): Show |
8 | 207 | 0.0386 | 7 | c.173 others(26): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar |