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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
POLRMT_chr19_612221_638537 | 614028 | G | GGGGGGCG others(28): Show |
downstream_gene_variant | MODIFIER | NA18973.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0317 | 1 | 422 | 0.0024 | 35 | c.*32 others(46): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 3192 | chr19 | TogoVar | ||||||
POMGNT1_chr1_46183683_46203434 | 46198945 | G | GTTTTTTT others(28): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 406 | 0.0025 | 35 | c.-66 others(44): Show |
POMGNT1 | ENSG00000085998.15 | transcript | ENST00000371984.8 | protein_coding | 512 | chr1 | TogoVar | ||||||
POMZP3_chr7_76604986_76632279 | 76620861 | A | ATTTTTTT others(28): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0061 | 1 | 423 | 0.0024 | 35 | c.228 others(52): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
POTED_chr21_13604777_13650823 | 13637004 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0087 | 1 | 416 | 0.0024 | 35 | c.141 others(54): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
POTED_chr21_13604777_13650823 | 13646287 | A | AAAAAAAA others(28): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0157 | 1 | 416 | 0.0024 | 35 | c.*47 others(46): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 465 | chr21 | TogoVar | ||||||
POTED_chr21_13604777_13650823 | 13646287 | A | AAAAAAAA others(28): Show |
downstream_gene_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0001 | 1 | 416 | 0.0024 | 35 | c.*47 others(46): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 465 | chr21 | TogoVar | ||||||
POTED_chr21_13604777_13650823 | 13646499 | C | CAACAAGG others(28): Show |
downstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0033 | 1 | 416 | 0.0024 | 35 | c.*49 others(46): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 677 | chr21 | TogoVar | ||||||
POU2AF2_chr11_111240725_111291401 | 111268477 | T | TTTTTATT others(28): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0136 | 1 | 380 | 0.0026 | 35 | c.120 others(54): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
POU2F1_chr1_167215886_167432340 | 167237772 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0092 | 1 | 292 | 0.0034 | 35 | c.61+ others(52): Show |
POU2F1 | ENSG00000143190.23 | transcript | ENST00000367866.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
POU2F2_chr19_42081110_42137446 | 42131112 | T | TTCTGCCT others(28): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0027 | 1 | 176 | 0.0057 | 35 | c.28+ others(50): Show |
POU2F2 | ENSG00000028277.22 | transcript | ENST00000692977.1 | protein_coding | 1/14 | chr19 | TogoVar | ||||||
POU2F2_chr19_42081110_42137446 | 42135621 | C | CTTTCCTG others(28): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0017 | 1 | 176 | 0.0057 | 35 | c.-32 others(46): Show |
POU2F2 | ENSG00000028277.22 | transcript | ENST00000692977.1 | protein_coding | 3176 | chr19 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39297742 | T | TAGCAGCT others(28): Show |
intron_variant | MODIFIER | HG02630.hp1 NA20300.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0002a0001c0005t0001g0005 | 2 | 170 | 0.0118 | 35 | c.599 others(54): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 4/9 | chr7 | TogoVar | ||||||
PPA1_chr10_70197835_70238429 | 70206855 | A | AGGAGGGG others(28): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0257 | 1 | 408 | 0.0025 | 35 | c.726 others(50): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 8/10 | chr10 | TogoVar | ||||||
PPA1_chr10_70197835_70238429 | 70206865 | A | AGGAGGGG others(28): Show |
intron_variant | MODIFIER | HG02886.hp1 NA19009.hp1 NA19076.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0068a0001c0001t0001g0105a0001c0003t0004g0043 | 3 | 408 | 0.0074 | 35 | c.726 others(50): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 8/10 | chr10 | TogoVar | ||||||
PPEF2_chr4_75854867_75907452 | 75877006 | A | AAAGAAAG others(28): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 270 | 0.0037 | 35 | c.934 others(50): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 10/16 | chr4 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70277060 | A | ATATATTA others(28): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02965.hp1 |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0161a0001c0005t0003g0162 | 2 | 282 | 0.0071 | 35 | c.264 others(52): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPFIA1_chr11_70265690_70389396 | 70277060 | A | ATATATTA others(28): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0168 | 1 | 282 | 0.0036 | 35 | c.264 others(52): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPFIA1_chr11_70265690_70389396 | 70277060 | A | ATATTATA others(28): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0008 | 1 | 282 | 0.0036 | 35 | c.264 others(52): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPFIA1_chr11_70265690_70389396 | 70277060 | A | ATATTATA others(28): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0018 | 1 | 282 | 0.0036 | 35 | c.264 others(52): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPFIA1_chr11_70265690_70389396 | 70279905 | A | ATTGTGTG others(28): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03195.hp2 |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0158a0001c0005t0003g0159 | 2 | 282 | 0.0071 | 35 | c.264 others(52): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPFIA3_chr19_49114544_49156026 | 49137628 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 | 1 | 362 | 0.0028 | 35 | c.185 others(52): Show |
PPFIA3 | ENSG00000177380.14 | transcript | ENST00000334186.9 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PPHLN1_chr12_42321167_42447181 | 42360110 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 376 | 0.0027 | 35 | c.299 others(52): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPHLN1_chr12_42321167_42447181 | 42427496 | G | GCAAACAA others(28): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 376 | 0.0027 | 35 | c.910 others(54): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPIG_chr2_169579351_169646406 | 169606591 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0338 | 1 | 382 | 0.0026 | 35 | c.244 others(50): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PPL_chr16_4877507_4942148 | 4920371 | G | GAAAGAAA others(28): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01123.hp1 HG02109.hp1 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0024a0002c0006others(4): Show | a0001c0001t0001a0001c0024t0001a0002c0006t0003others(5): Show | a0001c0001t0001g0166a0001c0001t0001g0190a0001c0001t0001g0224others(13): Show | 16 | 372 | 0.0430 | 35 | c.63- others(50): Show |
PPL | ENSG00000118898.16 | transcript | ENST00000345988.7 | protein_coding | 1/21 | chr16 | TogoVar | ||||||
PPP1CB_chr2_28746830_28807940 | 28749920 | A | AAGCTGCT others(28): Show |
upstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0232 | 1 | 366 | 0.0027 | 35 | c.-22 others(46): Show |
PPP1CB | ENSG00000213639.11 | transcript | ENST00000395366.3 | protein_coding | 1909 | chr2 | TogoVar | ||||||
PPP1CB_chr2_28746830_28807940 | 28785065 | C | CTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0021 | 1 | 366 | 0.0027 | 35 | c.592 others(52): Show |
PPP1CB | ENSG00000213639.11 | transcript | ENST00000395366.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PPP1R12B_chr1_202343699_202597702 | 202344111 | T | TCTTCACT others(28): Show |
upstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 254 | 0.0039 | 35 | c.-47 others(46): Show |
PPP1R12B | ENSG00000077157.23 | transcript | ENST00000608999.6 | protein_coding | 4587 | chr1 | TogoVar | ||||||
PPP1R13B_chr14_103728195_103852575 | 103827608 | G | GGTATATA others(28): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0028 | 2 | 332 | 0.0060 | 35 | c.9+1 others(50): Show |
PPP1R13B | ENSG00000088808.18 | transcript | ENST00000202556.14 | protein_coding | 1/16 | chr14 | TogoVar | ||||||
PPP1R13L_chr19_45374638_45410069 | 45375534 | A | ATATTTTA others(28): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 HG03942.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0210a0001c0002t0002g0281 | 2 | 376 | 0.0053 | 35 | c.*46 others(46): Show |
PPP1R13L | ENSG00000104881.16 | transcript | ENST00000360957.10 | protein_coding | 4103 | chr19 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150242340 | T | TATTTTAC others(28): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(196): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0017others(195): Show | 199 | 312 | 0.6378 | 35 | c.424 others(52): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPP1R16B_chr20_38800697_38928024 | 38855978 | A | AAGGAGGA others(28): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02818.hp2 HG03041.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0008a0001c0006t0001 | a0001c0001t0008g0243a0001c0001t0008g0244a0001c0006t0001g0242 | 3 | 244 | 0.0123 | 35 | c.250 others(54): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 2/10 | chr20 | TogoVar | ||||||
PPP1R16B_chr20_38800697_38928024 | 38855982 | A | AGAGAGAG others(28): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0114a0001c0002t0003g0115 | 2 | 244 | 0.0082 | 35 | c.250 others(54): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 2/10 | chr20 | TogoVar | ||||||
PPP1R16B_chr20_38800697_38928024 | 38895299 | C | CTGACAGA others(28): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0128 | 1 | 244 | 0.0041 | 35 | c.322 others(50): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PPP1R16B_chr20_38800697_38928024 | 38895887 | T | TCTCCTCC others(28): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 244 | 0.0041 | 35 | c.467 others(50): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | chr20 | TogoVar | ||||||
PPP1R16B_chr20_38800697_38928024 | 38908158 | A | AGGGAGAC others(28): Show |
splice_donor_variant others(1): Show |
HIGH | HG03710.hp1 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0139 | 1 | 244 | 0.0041 | 35 | c.116 others(46): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PPP2R2C_chr4_6315581_6477614 | 6397542 | T | TCCCCTCC others(28): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00621.hp1 others(105): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(105): Show | 108 | 298 | 0.3624 | 35 | c.71- others(52): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
PPP2R2D_chr10_131896008_131964834 | 131952967 | C | CGGGGGTT others(28): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0258 | 1 | 394 | 0.0025 | 35 | c.108 others(54): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP2R3A_chr3_135960728_136152894 | 136136073 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0215 | 1 | 238 | 0.0042 | 35 | c.333 others(54): Show |
PPP2R3A | ENSG00000073711.11 | transcript | ENST00000264977.8 | protein_coding | 13/13 | chr3 | TogoVar | ||||||
PPP3CA_chr4_101018418_101352526 | 101106450 | A | AAAGAAAG others(28): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0028 | 1 | 192 | 0.0052 | 35 | c.384 others(52): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 3/13 | chr4 | TogoVar | ||||||
PPP3CA_chr4_101018418_101352526 | 101106466 | A | AAAGAAAG others(28): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0102 | 1 | 192 | 0.0052 | 35 | c.384 others(52): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 3/13 | chr4 | TogoVar | ||||||
PPP6R1_chr19_55224779_55264017 | 55261618 | T | TTTCGTTG others(28): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 378 | 0.0027 | 35 | c.-31 others(46): Show |
PPP6R1 | ENSG00000105063.19 | transcript | ENST00000412770.7 | protein_coding | 2602 | chr19 | TogoVar | ||||||
PPWD1_chr5_65558296_65592549 | 65573476 | T | TATATATA others(28): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 384 | 0.0026 | 35 | c.969 others(52): Show |
PPWD1 | ENSG00000113593.12 | transcript | ENST00000261308.10 | protein_coding | 5/10 | chr5 | TogoVar | ||||||
PRAM1_chr19_8485056_8507640 | 8499601 | C | CTTGGGGA others(28): Show |
frameshift_variant | HIGH | NA19003.hp2 | a0069 | a0069c0094 | a0069c0094t0002 | a0069c0094t0002g0263 | 1 | 422 | 0.0024 | 35 | c.206 others(42): Show |
p.Lys others(4): Show |
PRAM1 | ENSG00000133246.12 | transcript | ENST00000423345.5 | protein_coding | 2/10 | 255/2195 | 206/2013 | 69/670 | chr19 | TogoVar | ||
PRCC_chr1_156762535_156805815 | 156792053 | C | CTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 350 | 0.0029 | 35 | c.117 others(52): Show |
PRCC | ENSG00000143294.15 | transcript | ENST00000271526.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRCD_chr17_76535044_76550376 | 76540345 | A | ACCCCCCC others(28): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 442 | 0.0023 | 35 | c.74+ others(48): Show |
PRCD | ENSG00000214140.11 | transcript | ENST00000592014.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PRDM10_chr11_129894711_130007835 | 129963382 | G | GAAAAGAG others(28): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02145.hp2 HG03669.hp2 others(3): Show |
a0001a0002 | a0001c0003a0002c0008 | a0001c0003t0001a0001c0003t0024a0002c0008t0006 | a0001c0003t0001g0115a0001c0003t0001g0206a0001c0003t0001g0242others(3): Show | 6 | 326 | 0.0184 | 35 | c.-11 others(54): Show |
PRDM10 | ENSG00000170325.16 | transcript | ENST00000360871.8 | protein_coding | 1/20 | chr11 | TogoVar | ||||||
PRDM12_chr9_130659594_130687983 | 130680659 | A | ATATAAAT others(28): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0256 | 1 | 392 | 0.0026 | 35 | c.683 others(50): Show |
PRDM12 | ENSG00000130711.5 | transcript | ENST00000253008.3 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRDM15_chr21_41793225_41884344 | 41856073 | C | CCCTTCCT others(28): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0370 | 1 | 406 | 0.0025 | 35 | c.285 others(52): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 4/23 | chr21 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41856106 | T | TTTCCTTC others(28): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01433.hp1 NA18994.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0004a0001c0003t0001a0001c0003t0019others(1): Show | a0001c0001t0004g0247a0001c0003t0001g0237a0001c0003t0019g0175others(2): Show | 5 | 406 | 0.0123 | 35 | c.285 others(52): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 4/23 | chr21 | TogoVar |