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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIN4_chrX_72176757_72203340 | 72192580 | GCTTTTTT | G | intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0105 | 1 | 307 | 0.0033 | -7 | c.118 others(24): Show |
PIN4 | ENSG00000102309.15 | transcript | ENST00000373669.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PIN4_chrX_72176757_72203340 | 72194701 | CAAAAAAA | C | intron_variant | MODIFIER | NA18949.hp2 NA19043.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0024a0001c0001t0009g0139 | 3 | 307 | 0.0098 | -7 | c.118 others(24): Show |
PIN4 | ENSG00000102309.15 | transcript | ENST00000373669.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PIN4_chrX_72176757_72203340 | 72203252 | CTTCCATT | C | downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 307 | 0.0033 | -7 | c.*57 others(18): Show |
PIN4 | ENSG00000102309.15 | transcript | ENST00000373669.8 | protein_coding | 4913 | chrX | TogoVar | ||||||
PIP4K2A_chr10_22529854_22719578 | 22549838 | CAAAAAAA | C | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01192.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(7): Show | a0001c0001t0001g0104a0001c0001t0001g0114a0001c0001t0001g0121others(26): Show | 29 | 206 | 0.1408 | -7 | c.792 others(22): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 7/9 | chr10 | TogoVar | ||||||
PIP4K2A_chr10_22529854_22719578 | 22565079 | TCTCCTGG | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(44): Show |
a0002 | a0002c0003a0002c0004a0002c0006 | a0002c0003t0003a0002c0003t0007a0002c0003t0009others(17): Show | a0002c0003t0003g0112a0002c0003t0003g0113a0002c0003t0003g0116others(44): Show | 47 | 206 | 0.2282 | -7 | c.678 others(24): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 6/9 | chr10 | TogoVar | ||||||
PIP4K2A_chr10_22529854_22719578 | 22601130 | CAAAAAAA | C | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0010a0001c0005t0014a0001c0005t0020 | a0001c0002t0010g0083a0001c0005t0014g0080a0001c0005t0014g0081others(3): Show | 6 | 206 | 0.0291 | -7 | c.339 others(24): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
PIP4K2A_chr10_22529854_22719578 | 22627588 | TAATAAAA | T | intron_variant | MODIFIER | HG00639.hp1 HG01169.hp2 HG02615.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0002t0001 | a0001c0001t0004g0090a0001c0001t0004g0092a0001c0001t0004g0156others(2): Show | 5 | 206 | 0.0243 | -7 | c.145 others(26): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
PIP4K2A_chr10_22529854_22719578 | 22705425 | TTAAAAAA | T | intron_variant | MODIFIER | HG03098.hp1 HG03579.hp2 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0001a0001c0011t0006 | a0001c0002t0001g0039a0001c0011t0006g0043 | 2 | 206 | 0.0097 | -7 | c.144 others(24): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
PIP4K2B_chr17_38760691_38804556 | 38803095 | CTGAAATA | C | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02895.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0053a0001c0001t0014g0054a0001c0001t0014g0055 | 3 | 379 | 0.0079 | -7 | c.-36 others(18): Show |
PIP4K2B | ENSG00000276293.5 | transcript | ENST00000619039.5 | protein_coding | 3540 | chr17 | TogoVar | ||||||
PIP4P2_chr8_90988802_91045859 | 90993298 | TCCAAAAA | T | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02622.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0186a0001c0001t0001g0187others(1): Show | 4 | 342 | 0.0117 | -7 | c.*23 others(18): Show |
PIP4P2 | ENSG00000155099.8 | transcript | ENST00000285419.8 | protein_coding | 503 | chr8 | TogoVar | ||||||
PIP5K1B_chr9_68700240_69014176 | 68733627 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00642.hp1 others(79): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(79): Show | 82 | 220 | 0.3727 | -7 | c.-24 others(26): Show |
PIP5K1B | ENSG00000107242.20 | transcript | ENST00000265382.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PIP5K1B_chr9_68700240_69014176 | 68992839 | CAAAAAAA | C | intron_variant | MODIFIER | HG01175.hp1 HG01255.hp2 HG02451.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0033a0001c0001t0001g0037others(11): Show | 14 | 220 | 0.0636 | -7 | c.162 others(26): Show |
PIP5K1B | ENSG00000107242.20 | transcript | ENST00000265382.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PIP5K1C_chr19_3625183_3705468 | 3703566 | AAAAAAAG | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(136): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0013others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(135): Show | 139 | 332 | 0.4187 | -7 | c.-31 others(18): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 3099 | chr19 | TogoVar | ||||||
PIP5KL1_chr9_127915881_127935777 | 127922705 | AAAAAAAG | A | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG03453.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014a0001c0002t0001g0056a0001c0002t0001g0065 | 6 | 400 | 0.0150 | -7 | c.918 others(22): Show |
PIP5KL1 | ENSG00000167103.12 | transcript | ENST00000388747.9 | protein_coding | 9/9 | chr9 | TogoVar | ||||||
PIRT_chr17_10817470_10843087 | 10843034 | CTTTTCTT | C | upstream_gene_variant | MODIFIER | NA18954.hp1 NA18954.hp2 NA18956.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0048a0001c0001t0001g0223a0001c0001t0003g0003others(2): Show | 5 | 454 | 0.0110 | -7 | c.-52 others(18): Show |
PIRT | ENSG00000233670.7 | transcript | ENST00000580256.3 | protein_coding | 4948 | chr17 | TogoVar | ||||||
PIR_chrX_15379799_15498333 | 15431171 | AATATCCT | A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241a0001c0001t0001g0242a0001c0001t0001g0243 | 3 | 272 | 0.0110 | -7 | c.481 others(24): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 5/9 | chrX | TogoVar | ||||||
PISD_chr22_31613491_31667215 | 31637143 | TAAAAAAA | T | intron_variant | MODIFIER | HG00741.hp1 HG01168.hp2 HG01192.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0016 | a0001c0001t0001g0151a0001c0001t0001g0188a0001c0001t0001g0199others(4): Show | 7 | 328 | 0.0213 | -7 | c.321 others(26): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | ||||||
PISD_chr22_31613491_31667215 | 31658855 | CTTTTTTT | C | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02630.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0013a0001c0001t0015others(1): Show | a0001c0001t0008g0002a0001c0001t0008g0027a0001c0001t0008g0028others(6): Show | 10 | 328 | 0.0305 | -7 | c.65+ others(22): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 1/7 | chr22 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67457367 | CTGTTTTT | C | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02622.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0100a0001c0001t0002g0102a0001c0001t0002g0120others(6): Show | 9 | 218 | 0.0413 | -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 | 67472332 | TAAAAAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(79): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0081a0001c0001t0001g0086a0001c0001t0001g0087others(79): Show | 82 | 218 | 0.3762 | -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 | 67599027 | TATATATA | T | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG02486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0017others(2): Show | a0001c0001t0002g0090a0001c0001t0005g0110a0001c0001t0017g0062others(2): Show | 5 | 218 | 0.0229 | -7 | c.366 others(26): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67599028 | ATATATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG01516.hp1 HG02683.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(4): Show | a0001c0001t0002g0003a0001c0001t0002g0190a0001c0001t0005g0182others(5): Show | 8 | 218 | 0.0367 | -7 | c.366 others(26): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNM2_chr12_122978480_123156090 | 123018293 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00621.hp2 others(65): Show |
a0001a0003a0009 | a0001c0001a0001c0015a0003c0024others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0154a0001c0001t0002g0003a0001c0001t0002g0033others(64): Show | 68 | 230 | 0.2957 | -7 | c.79- others(22): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 3/25 | chr12 | TogoVar | ||||||
PITPNM2_chr12_122978480_123156090 | 123128264 | CAAAAAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG02071.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0098a0001c0001t0003g0109a0001c0001t0003g0110others(5): Show | 8 | 230 | 0.0348 | -7 | c.-19 others(28): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 1/25 | chr12 | TogoVar | ||||||
PIWIL2_chr8_22270316_22362568 | 22290613 | ATTTTTTT | A | intron_variant | MODIFIER | HG00738.hp1 HG01255.hp1 HG01516.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0106a0001c0001t0002g0031a0001c0001t0002g0032others(4): Show | 7 | 296 | 0.0237 | -7 | c.118 others(24): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PIWIL3_chr22_24714034_24779720 | 24757079 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(115): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0007a0001c0001t0001g0203a0001c0001t0001g0205others(113): Show | 118 | 386 | 0.3057 | -7 | c.356 others(22): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109343290 | AAAGAAAG | A | intron_variant | MODIFIER | HG01168.hp1 HG01175.hp1 HG02897.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0020 | a0003c0003t0002g0059a0003c0003t0002g0068a0003c0003t0002g0085others(4): Show | 7 | 346 | 0.0202 | -7 | c.200 others(24): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109394039 | CTTTTTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00639.hp1 others(91): Show |
a0001a0005 | a0001c0001a0001c0007a0005c0009 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(7): Show | a0001c0001t0001g0010a0001c0001t0001g0194a0001c0001t0001g0198others(90): Show | 94 | 346 | 0.2717 | -7 | c.-87 others(26): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 1/9 | chr5 | TogoVar | ||||||
PKD1L1_chr7_47769614_47953466 | 47889367 | TTTAATGA | T | intron_variant | MODIFIER | HG00099.hp1 HG02451.hp2 HG02559.hp2 others(18): Show |
a0016a0025a0031others(10): Show | a0016c0022a0016c0142a0025c0030others(13): Show | a0016c0022t0001a0016c0142t0003a0025c0030t0002others(13): Show | a0016c0022t0001g0230a0016c0022t0001g0231a0016c0022t0001g0232others(18): Show | 21 | 306 | 0.0686 | -7 | c.267 others(26): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 16/56 | chr7 | TogoVar | ||||||
PKD1L1_chr7_47769614_47953466 | 47893229 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG02723.hp2 HG02897.hp1 others(3): Show |
a0025a0032a0039others(2): Show | a0025c0030a0032c0101a0039c0044others(2): Show | a0025c0030t0002a0032c0101t0001a0039c0044t0001others(2): Show | a0025c0030t0002g0301a0025c0030t0002g0304a0032c0101t0001g0290others(3): Show | 6 | 306 | 0.0196 | -7 | c.245 others(24): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 15/56 | chr7 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71981535 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(33): Show |
a0001a0002a0008others(14): Show | a0001c0001a0001c0028a0002c0002others(17): Show | a0001c0001t0001a0001c0028t0001a0002c0002t0001others(17): Show | a0001c0001t0001g0050a0001c0001t0001g0184a0001c0028t0001g0263others(33): Show | 36 | 308 | 0.1169 | -7 | c.114 others(24): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 7/29 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2115957 | GCCCACCA | G | intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01071.hp2 others(20): Show |
a0001a0003a0006others(12): Show | a0001c0044a0003c0042a0003c0043others(15): Show | a0001c0044t0001a0003c0042t0012a0003c0043t0001others(15): Show | a0001c0044t0001g0204a0003c0042t0012g0203a0003c0043t0001g0206others(20): Show | 23 | 216 | 0.1065 | -7 | c.184 others(22): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 9/45 | chr16 | TogoVar | ||||||
PKD2_chr4_88002635_88082777 | 88058536 | CTCTTTCT | C | intron_variant | MODIFIER | HG01167.hp2 HG02572.hp2 HG02615.hp1 |
a0001a0003 | a0001c0012a0003c0015 | a0001c0012t0003a0003c0015t0003 | a0001c0012t0003g0111a0001c0012t0003g0142a0003c0015t0003g0024 | 3 | 342 | 0.0088 | -7 | c.201 others(24): Show |
PKD2 | ENSG00000118762.8 | transcript | ENST00000237596.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PKHD1L1_chr8_109357461_109542207 | 109415860 | AAGGGGTG | A | intron_variant | MODIFIER | HG01257.hp1 HG04184.hp2 HG04199.hp2 others(6): Show |
a0001a0030a0031 | a0001c0001a0001c0053a0030c0055others(1): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0011others(3): Show | a0001c0001t0002g0210a0001c0001t0002g0236a0001c0001t0010g0191others(6): Show | 9 | 282 | 0.0319 | -7 | c.236 others(26): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | chr8 | TogoVar | ||||||
PKHD1L1_chr8_109357461_109542207 | 109428023 | CAAAAAAA | C | intron_variant | MODIFIER | HG02040.hp2 HG02273.hp1 NA18966.hp2 others(5): Show |
a0001a0018 | a0001c0001a0018c0021 | a0001c0001t0002a0001c0001t0010a0018c0021t0001 | a0001c0001t0002g0199a0001c0001t0002g0200a0001c0001t0002g0202others(5): Show | 8 | 282 | 0.0284 | -7 | c.300 others(24): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 25/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PKHD1_chr6_51610299_52092613 | 51941236 | CTTTTTTT | C | intron_variant | MODIFIER | HG02809.hp1 HG02809.hp2 HG02922.hp1 others(2): Show |
a0001a0006a0037 | a0001c0001a0001c0082a0001c0094others(2): Show | a0001c0001t0001a0001c0082t0001a0001c0094t0001others(2): Show | a0001c0001t0001g0062a0001c0082t0001g0105a0001c0094t0001g0131others(2): Show | 5 | 134 | 0.0373 | -7 | c.590 others(26): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 36/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 52039338 | TCATGGGG | T | intron_variant | MODIFIER | HG00423.hp1 HG00738.hp2 HG01074.hp2 others(36): Show |
a0001a0002a0005others(11): Show | a0001c0001a0001c0002a0001c0009others(23): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(27): Show | a0001c0001t0001g0060a0001c0001t0001g0062a0001c0002t0001g0083others(36): Show | 39 | 134 | 0.2910 | -7 | c.309 others(26): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 27/66 | chr6 | TogoVar | ||||||
PKM_chr15_72194029_72236190 | 72227768 | AAAAAAAC | A | intron_variant | MODIFIER | HG01496.hp2 HG01884.hp1 HG01978.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0046a0001c0001t0001g0047others(3): Show | 8 | 370 | 0.0216 | -7 | c.-14 others(24): Show |
PKM | ENSG00000067225.21 | transcript | ENST00000335181.10 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
PKN2_chr1_88679273_88841255 | 88748460 | AATGTACT | A | intron_variant | MODIFIER | HG02922.hp1 HG03041.hp1 HG03195.hp1 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0007a0001c0003t0005g0148a0001c0003t0005g0149 | 3 | 330 | 0.0091 | -7 | c.349 others(24): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PKN2_chr1_88679273_88841255 | 88818647 | CAAAAAAA | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0005 | a0001c0005t0004a0001c0005t0009a0001c0005t0014 | a0001c0005t0004g0012a0001c0005t0004g0028a0001c0005t0004g0029others(8): Show | 11 | 330 | 0.0333 | -7 | c.228 others(26): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42982731 | CAAAAAAA | C | intron_variant | MODIFIER | HG01261.hp1 HG02055.hp2 HG02109.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0019a0001c0001t0032others(1): Show | a0001c0001t0006g0183a0001c0001t0006g0184a0001c0001t0006g0186others(4): Show | 7 | 362 | 0.0193 | -7 | c.-57 others(24): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42983486 | GCTGAATA | G | intron_variant | MODIFIER | HG02965.hp1 HG03098.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0039 | a0001c0002t0012g0292a0001c0002t0012g0356a0001c0002t0012g0357others(1): Show | 4 | 362 | 0.0111 | -7 | c.-57 others(24): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42993652 | TTTTTTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(75): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0027a0001c0001t0001g0076a0001c0001t0001g0093others(75): Show | 78 | 362 | 0.2155 | -7 | c.-56 others(26): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 43033429 | TTTCGTTC | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG01070.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0015a0001c0001t0044 | a0001c0001t0008g0268a0001c0001t0008g0269a0001c0001t0008g0271others(15): Show | 18 | 362 | 0.0497 | -7 | c.*33 others(18): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 11/11 | 3330 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
PKNOX2_chr11_125159751_125438389 | 125161305 | GGTGACTA | G | upstream_gene_variant | MODIFIER | HG02615.hp1 HG02818.hp2 HG03471.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0085a0001c0001t0003g0087a0001c0001t0004g0084others(3): Show | 6 | 222 | 0.0270 | -7 | c.-36 others(18): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 3445 | chr11 | TogoVar | ||||||
PKNOX2_chr11_125159751_125438389 | 125198834 | TCTTCTTC | T | intron_variant | MODIFIER | HG02922.hp1 HG03471.hp1 HG03540.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0133a0001c0001t0003g0087a0001c0001t0004g0086others(2): Show | 5 | 222 | 0.0225 | -7 | c.-20 others(28): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 1/12 | chr11 | TogoVar | ||||||
PKNOX2_chr11_125159751_125438389 | 125242042 | ACACCATG | A | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG01884.hp2 others(15): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0130a0001c0001t0001g0163a0001c0001t0001g0182others(15): Show | 18 | 222 | 0.0811 | -7 | c.-13 others(26): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP2_chr12_32785755_32901777 | 32828308 | AAAAAGAG | A | intron_variant | MODIFIER | HG01069.hp1 HG02132.hp1 HG03927.hp1 |
a0002a0008 | a0002c0002a0008c0021 | a0002c0002t0009a0008c0021t0001 | a0002c0002t0009g0197a0002c0002t0009g0198a0008c0021t0001g0328 | 3 | 342 | 0.0088 | -7 | c.155 others(26): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 6/12 | chr12 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401778 | CACCCCCG | C | intron_variant | MODIFIER | HG02622.hp1 HG03834.hp1 |
a0001a0013 | a0001c0008a0013c0027 | a0001c0008t0001a0013c0027t0001 | a0001c0008t0001g0192a0013c0027t0001g0170 | 2 | 216 | 0.0093 | -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 | 401786 | ACCCCCGG | A | intron_variant | MODIFIER | HG02135.hp1 HG02148.hp1 HG02647.hp2 others(5): Show |
a0001a0005 | a0001c0001a0001c0005a0001c0008others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0008t0001others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0032a0001c0001t0001g0075others(5): Show | 8 | 216 | 0.0370 | -7 | c.173 others(26): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |