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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIP5K1A_chr1_151193552_151254531 | 151251260 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02559.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0305a0001c0001t0001g0306a0001c0001t0006g0155others(3): Show | 6 | 334 | 0.0180 | 9 | c.*33 others(20): Show |
PIP5K1A | ENSG00000143398.20 | transcript | ENST00000368888.9 | protein_coding | 1730 | chr1 | TogoVar | ||||||
PIP5K1B_chr9_68700240_69014176 | 68705620 | G | GCCCTCCC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG01069.hp2 HG01071.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0102a0001c0001t0004g0103a0001c0001t0004g0121others(1): Show | 4 | 220 | 0.0182 | 9 | c.-36 others(18): Show |
PIP5K1B | ENSG00000107242.20 | transcript | ENST00000265382.8 | protein_coding | 1/16 | 116962 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
PIP5K1B_chr9_68700240_69014176 | 68857959 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG01255.hp2 others(38): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0019a0001c0001t0001g0020others(38): Show | 41 | 220 | 0.1864 | 9 | c.70- others(24): Show |
PIP5K1B | ENSG00000107242.20 | transcript | ENST00000265382.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PIP5K1B_chr9_68700240_69014176 | 69014122 | C | CGCGGCGG others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp1 others(62): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(62): Show | 65 | 220 | 0.2955 | 9 | c.*56 others(20): Show |
PIP5K1B | ENSG00000107242.20 | transcript | ENST00000265382.8 | protein_coding | 4947 | chr9 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3696735 | G | GGGGAGGG others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02922.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0016a0001c0002t0003others(1): Show | a0001c0001t0009g0206a0001c0001t0016g0208a0001c0002t0003g0314others(3): Show | 6 | 332 | 0.0181 | 9 | c.94+ others(24): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 1/17 | chr19 | TogoVar | ||||||
PIR_chrX_15379799_15498333 | 15398665 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 272 | 0.0037 | 9 | c.611 others(26): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 7/9 | chrX | TogoVar | ||||||
PIR_chrX_15379799_15498333 | 15398718 | C | CAGATCTG others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(116): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0099a0001c0001t0001g0112a0001c0001t0001g0113others(115): Show | 119 | 272 | 0.4375 | 9 | c.611 others(26): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 7/9 | chrX | TogoVar | ||||||
PITPNB_chr22_27846669_27924256 | 27849231 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01928.hp2 HG01943.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0004 | a0001c0001t0004g0009a0001c0001t0004g0059a0001c0001t0004g0060others(13): Show | 16 | 366 | 0.0437 | 9 | c.*44 others(20): Show |
PITPNB | ENSG00000180957.19 | transcript | ENST00000335272.10 | protein_coding | 2437 | chr22 | TogoVar | ||||||
PITPNB_chr22_27846669_27924256 | 27885212 | T | TTAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18947.hp1 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0122a0001c0001t0007g0123a0001c0001t0007g0128 | 3 | 366 | 0.0082 | 9 | c.456 others(26): Show |
PITPNB | ENSG00000180957.19 | transcript | ENST00000335272.10 | protein_coding | 7/11 | chr22 | TogoVar | ||||||
PITPNB_chr22_27846669_27924256 | 27896454 | T | TACTAGTC others(2): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03130.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0347a0001c0001t0008g0348a0001c0001t0008g0349 | 3 | 366 | 0.0082 | 9 | c.372 others(22): Show |
PITPNB | ENSG00000180957.19 | transcript | ENST00000335272.10 | protein_coding | 6/11 | chr22 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67575879 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0013others(5): Show | a0001c0001t0002g0106a0001c0001t0008g0168a0001c0001t0013g0077others(5): Show | 8 | 218 | 0.0367 | 9 | c.295 others(26): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67631653 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02486.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013a0001c0001t0028 | a0001c0001t0007g0103a0001c0001t0013g0121a0001c0001t0028g0070 | 3 | 218 | 0.0138 | 9 | c.367 others(24): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67631655 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02647.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0032a0001c0001t0073 | a0001c0001t0007g0107a0001c0001t0007g0127a0001c0001t0007g0177others(2): Show | 5 | 218 | 0.0229 | 9 | c.367 others(24): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67641783 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0086a0001c0001t0001g0087a0001c0001t0001g0124others(26): Show | 29 | 218 | 0.1330 | 9 | c.462 others(26): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNM3_chr17_6446263_6561555 | 6448282 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00673.hp1 HG00738.hp1 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0008a0001c0001t0001g0020a0001c0001t0001g0021others(50): Show | 53 | 218 | 0.2431 | 9 | c.*70 others(20): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 2980 | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6467080 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01167.hp2 HG01256.hp2 others(43): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(35): Show | a0001c0001t0001g0162a0001c0001t0002g0057a0001c0001t0006g0035others(43): Show | 46 | 218 | 0.2110 | 9 | c.189 others(28): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6467082 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG01074.hp2 others(20): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0011a0001c0002t0001a0001c0002t0011others(17): Show | a0001c0001t0011g0038a0001c0002t0001g0060a0001c0002t0011g0146others(20): Show | 23 | 218 | 0.1055 | 9 | c.189 others(28): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
PITRM1_chr10_3132728_3177782 | 3134446 | T | TTAAATAG others(2): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG00733.hp2 HG00741.hp1 others(40): Show |
a0001a0003a0005others(1): Show | a0001c0005a0001c0011a0001c0015others(7): Show | a0001c0005t0002a0001c0011t0003a0001c0015t0002others(7): Show | a0001c0005t0002g0039a0001c0005t0002g0040a0001c0005t0002g0041others(36): Show | 43 | 446 | 0.0964 | 9 | c.*35 others(20): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 3281 | chr10 | TogoVar | ||||||
PIWIL2_chr8_22270316_22362568 | 22353764 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01168.hp1 HG01169.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0183a0001c0001t0003g0266a0001c0001t0004g0217others(7): Show | 10 | 296 | 0.0338 | 9 | c.265 others(26): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PIWIL3_chr22_24714034_24779720 | 24740218 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01261.hp1 others(11): Show |
a0001a0018 | a0001c0001a0018c0025 | a0001c0001t0001a0018c0025t0002 | a0001c0001t0001g0331a0001c0001t0001g0332a0001c0001t0001g0333others(11): Show | 14 | 386 | 0.0363 | 9 | c.145 others(28): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 12/20 | chr22 | TogoVar | ||||||
PKD1L1_chr7_47769614_47953466 | 47788578 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01071.hp1 others(2): Show |
a0004a0008 | a0004c0011a0004c0029a0008c0043 | a0004c0011t0002a0004c0029t0002a0008c0043t0002 | a0004c0011t0002g0073a0004c0011t0002g0078a0004c0011t0002g0155others(2): Show | 5 | 306 | 0.0163 | 9 | c.852 others(28): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 56/56 | chr7 | TogoVar | ||||||
PKD1L1_chr7_47769614_47953466 | 47865568 | A | ATATTTTA others(2): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02723.hp2 HG02895.hp1 others(2): Show |
a0039a0063a0067others(1): Show | a0039c0044a0063c0100a0067c0130others(1): Show | a0039c0044t0001a0063c0100t0001a0067c0130t0001others(1): Show | a0039c0044t0001g0003a0039c0044t0001g0005a0063c0100t0001g0170others(2): Show | 5 | 306 | 0.0163 | 9 | c.409 others(26): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 25/56 | chr7 | TogoVar | ||||||
PKD1L1_chr7_47769614_47953466 | 47949368 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG02109.hp2 HG02257.hp2 others(9): Show |
a0001a0002a0003others(6): Show | a0001c0033a0001c0075a0002c0003others(7): Show | a0001c0033t0001a0001c0075t0001a0002c0003t0001others(7): Show | a0001c0033t0001g0117a0001c0075t0001g0148a0002c0003t0001g0187others(9): Show | 12 | 306 | 0.0392 | 9 | c.-92 others(18): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 903 | chr7 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71948803 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00609.hp2 others(27): Show |
a0001a0004a0017others(2): Show | a0001c0001a0001c0028a0001c0065others(6): Show | a0001c0001t0001a0001c0028t0001a0001c0065t0001others(7): Show | a0001c0001t0001g0184a0001c0001t0001g0185a0001c0001t0001g0187others(27): Show | 30 | 308 | 0.0974 | 9 | c.361 others(26): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 21/29 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104229 | G | GAGGGGGA others(2): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02922.hp1 HG03041.hp2 |
a0018a0054a0058 | a0018c0019a0054c0054a0058c0055 | a0018c0019t0002a0054c0054t0005a0058c0055t0002 | a0018c0019t0002g0210a0054c0054t0005g0195a0058c0055t0002g0191 | 3 | 216 | 0.0139 | 9 | c.816 others(26): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 22/45 | chr16 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51623583 | C | CTATTTTT others(2): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02897.hp2 |
a0027a0048 | a0027c0069a0048c0023 | a0027c0069t0018a0048c0023t0017 | a0027c0069t0018g0092a0048c0023t0017g0081 | 2 | 134 | 0.0149 | 9 | c.117 others(30): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 66/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51910739 | G | GTTATCAA others(2): Show |
intron_variant | MODIFIER | HG02897.hp2 HG06807.hp1 |
a0027a0039 | a0027c0069a0039c0066 | a0027c0069t0018a0039c0066t0003 | a0027c0069t0018g0092a0039c0066t0003g0098 | 2 | 134 | 0.0149 | 9 | c.649 others(28): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 39/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51950220 | A | AAAAATAT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18975.hp2 NA18989.hp1 others(3): Show |
a0003a0006a0007 | a0003c0012a0006c0011a0007c0003 | a0003c0012t0001a0006c0011t0005a0007c0003t0001 | a0003c0012t0001g0032a0006c0011t0005g0134a0007c0003t0001g0006others(3): Show | 6 | 134 | 0.0448 | 9 | c.590 others(28): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 36/66 | chr6 | TogoVar | ||||||
PKIA_chr8_78511340_78610267 | 78551104 | T | TTGTTAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00673.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0052a0001c0001t0001g0115a0001c0001t0002g0001others(35): Show | 45 | 186 | 0.2419 | 9 | c.-15 others(30): Show |
PKIA | ENSG00000171033.13 | transcript | ENST00000396418.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PKIB_chr6_122605405_122731373 | 122662308 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01257.hp2 HG01358.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0040a0001c0001t0001g0042a0001c0001t0001g0045others(22): Show | 25 | 312 | 0.0801 | 9 | c.-75 others(28): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PKIB_chr6_122605405_122731373 | 122670498 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0175a0001c0001t0001g0177a0001c0001t0001g0178others(2): Show | 5 | 312 | 0.0160 | 9 | c.-75 others(26): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PKLR_chr1_155284293_155306438 | 155292241 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(154): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(121): Show | 157 | 311 | 0.5048 | 9 | c.143 others(26): Show |
PKLR | ENSG00000143627.19 | transcript | ENST00000342741.6 | protein_coding | 9/10 | chr1 | TogoVar | ||||||
PKMYT1_chr16_2967808_2985446 | 2983522 | T | TTAATAAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01975.hp2 HG02080.hp2 others(13): Show |
a0001a0009 | a0001c0001a0009c0011 | a0001c0001t0001a0009c0011t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(5): Show | 16 | 392 | 0.0408 | 9 | c.-34 others(20): Show |
PKMYT1 | ENSG00000127564.17 | transcript | ENST00000262300.13 | protein_coding | 3077 | chr16 | TogoVar | ||||||
PKMYT1_chr16_2967808_2985446 | 2983565 | T | TAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 NA19030.hp2 NA20300.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0004a0001c0003t0002g0014a0001c0003t0002g0018 | 3 | 392 | 0.0077 | 9 | c.-35 others(20): Show |
PKMYT1 | ENSG00000127564.17 | transcript | ENST00000262300.13 | protein_coding | 3120 | chr16 | TogoVar | ||||||
PKN2_chr1_88679273_88841255 | 88789662 | C | CATAATAA others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03471.hp2 HG03688.hp2 others(4): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0006a0001c0005t0008a0001c0005t0009 | a0001c0004t0006g0013a0001c0004t0006g0014a0001c0004t0006g0015others(4): Show | 7 | 330 | 0.0212 | 9 | c.128 others(28): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PKN2_chr1_88679273_88841255 | 88789691 | T | TAATAACA others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02922.hp2 HG03516.hp2 |
a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0039a0001c0005t0012g0040a0001c0005t0012g0041 | 3 | 330 | 0.0091 | 9 | c.128 others(28): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PKN2_chr1_88679273_88841255 | 88832607 | A | ATTGTTGT others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02922.hp2 HG03516.hp2 |
a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0039a0001c0005t0012g0040a0001c0005t0012g0041 | 3 | 330 | 0.0091 | 9 | c.256 others(26): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PKNOX2_chr11_125159751_125438389 | 125404343 | T | TCCTTAAG others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01361.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0023a0001c0001t0002g0072a0001c0001t0002g0214 | 3 | 222 | 0.0135 | 9 | c.589 others(26): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP2_chr12_32785755_32901777 | 32797445 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(86): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(85): Show | 89 | 342 | 0.2602 | 9 | c.216 others(28): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 10/12 | chr12 | TogoVar | ||||||
PKP2_chr12_32785755_32901777 | 32797560 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp1 others(85): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0009others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(19): Show | a0001c0001t0002g0001a0001c0001t0002g0023a0001c0001t0002g0027others(84): Show | 88 | 342 | 0.2573 | 9 | c.216 others(28): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 10/12 | chr12 | TogoVar | ||||||
PKP2_chr12_32785755_32901777 | 32855794 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02055.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0216a0002c0002t0001g0217a0002c0002t0001g0220others(6): Show | 9 | 342 | 0.0263 | 9 | c.117 others(28): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 4/12 | chr12 | TogoVar | ||||||
PKP2_chr12_32785755_32901777 | 32858082 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03540.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0023a0001c0001t0003g0021a0001c0001t0003g0022 | 3 | 342 | 0.0088 | 9 | c.117 others(28): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 4/12 | chr12 | TogoVar | ||||||
PKP2_chr12_32785755_32901777 | 32858084 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02055.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0140a0001c0001t0001g0172a0001c0001t0003g0020others(11): Show | 14 | 342 | 0.0409 | 9 | c.117 others(28): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 4/12 | chr12 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 389254 | A | ATCATAGG others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00609.hp1 others(83): Show |
a0001a0002a0007others(6): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(13): Show | a0001c0001t0001g0084a0001c0002t0001g0100a0001c0002t0001g0103others(83): Show | 86 | 216 | 0.3982 | 9 | c.-50 others(20): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4954 | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401010 | G | GCTCACAC others(2): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01952.hp1 HG01975.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0095a0001c0003t0001g0096a0001c0003t0001g0098 | 3 | 216 | 0.0139 | 9 | c.173 others(26): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401785 | G | GGCCCCGC others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01496.hp1 HG01934.hp2 others(15): Show |
a0001a0010a0011 | a0001c0002a0001c0003a0001c0010others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0010t0003others(3): Show | a0001c0002t0001g0105a0001c0002t0001g0107a0001c0002t0001g0132others(15): Show | 18 | 216 | 0.0833 | 9 | c.173 others(28): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401808 | G | GGCCCCGC others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01261.hp1 HG01952.hp1 others(12): Show |
a0001a0002a0019 | a0001c0002a0001c0003a0001c0016others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0016t0001others(2): Show | a0001c0002t0001g0106a0001c0002t0001g0112a0001c0002t0001g0131others(12): Show | 15 | 216 | 0.0694 | 9 | c.173 others(28): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401878 | G | GACCCCGC others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02735.hp1 HG03017.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0112a0001c0002t0001g0141a0001c0003t0001g0165others(1): Show | 4 | 216 | 0.0185 | 9 | c.173 others(28): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 401878 | G | GGCCCCGC others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG01256.hp1 others(24): Show |
a0001a0002a0015others(2): Show | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(6): Show | a0001c0002t0001g0100a0001c0002t0001g0125a0001c0002t0001g0131others(24): Show | 27 | 216 | 0.1250 | 9 | c.173 others(28): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401948 | G | GGCCCCGC others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG01943.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0148a0001c0002t0001g0151a0001c0002t0001g0158others(2): Show | 5 | 216 | 0.0232 | 9 | c.173 others(28): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar |