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 | 622859 | G | GGCACAGG others(26): Show |
conservative_inframe_insertion | MODERATE | HG03710.hp2 | a0024 | a0024c0057 | a0024c0057t0002 | a0024c0057t0002g0191 | 1 | 422 | 0.0024 | 33 | c.138 others(42): Show |
p.Cys others(46): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 7/21 | 1441/3771 | 1416/3693 | 472/1230 | chr19 | TogoVar | ||
POLRMT_chr19_612221_638537 | 626696 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0236 | 1 | 422 | 0.0024 | 33 | c.823 others(50): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 3/20 | chr19 | TogoVar | ||||||
POMGNT2_chr3_43074234_43111079 | 43076383 | T | TGGGGGGG others(26): Show |
downstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 378 | 0.0027 | 33 | c.*33 others(44): Show |
POMGNT2 | ENSG00000144647.7 | transcript | ENST00000344697.3 | protein_coding | 2850 | chr3 | TogoVar | ||||||
PON1_chr7_95292676_95329532 | 95329009 | T | TTCCCATG others(26): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0037 | 1 | 434 | 0.0023 | 33 | c.-45 others(44): Show |
PON1 | ENSG00000005421.9 | transcript | ENST00000222381.8 | protein_coding | 4478 | chr7 | TogoVar | ||||||
POTED_chr21_13604777_13650823 | 13646287 | A | AAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0034 | 1 | 416 | 0.0024 | 33 | c.*47 others(44): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 465 | chr21 | TogoVar | ||||||
POU6F1_chr12_51181936_51223062 | 51208221 | C | CTTGAGCC others(26): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0107 | 1 | 440 | 0.0023 | 33 | c.-47 others(50): Show |
POU6F1 | ENSG00000184271.18 | transcript | ENST00000333640.12 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
PP2D1_chr3_19980346_20017264 | 20012958 | A | ATATATAT others(26): Show |
upstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 396 | 0.0025 | 33 | c.-88 others(42): Show |
PP2D1 | ENSG00000183977.14 | transcript | ENST00000389050.5 | protein_coding | 695 | chr3 | TogoVar | ||||||
PPA1_chr10_70197835_70238429 | 70220741 | A | ATATATAA others(26): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 408 | 0.0025 | 33 | c.124 others(50): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
PPA1_chr10_70197835_70238429 | 70221076 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0263 | 1 | 408 | 0.0025 | 33 | c.124 others(50): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
PPA1_chr10_70197835_70238429 | 70221077 | T | TATATATA others(26): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0265 | 1 | 408 | 0.0025 | 33 | c.124 others(50): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46174250 | G | GAAGGAAG others(26): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0190 | 1 | 200 | 0.0050 | 33 | c.-12 others(52): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPARA_chr22_46145526_46248755 | 46174266 | G | GAAGGAAA others(26): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0077 | 1 | 200 | 0.0050 | 33 | c.-12 others(52): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPARA_chr22_46145526_46248755 | 46174266 | G | GAAGGAAG others(26): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02886.hp2 HG03098.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0001c0001t0061a0003c0003t0036 | a0001c0001t0004g0051a0001c0001t0004g0151a0001c0001t0061g0188others(1): Show | 4 | 200 | 0.0200 | 33 | c.-12 others(52): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPARA_chr22_46145526_46248755 | 46174266 | G | GAAGGAAG others(26): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03130.hp1 HG03491.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0016a0001c0001t0020others(1): Show | a0001c0001t0008g0199a0001c0001t0016g0160a0001c0001t0020g0128others(1): Show | 4 | 200 | 0.0200 | 33 | c.-12 others(52): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPARD_chr6_35337558_35433178 | 35377871 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 238 | 0.0042 | 33 | c.-10 others(54): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPARGC1B_chr5_149725310_149860022 | 149809237 | A | ATAGATAG others(26): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0030 | a0001c0030t0031 | a0001c0030t0031g0320 | 1 | 320 | 0.0031 | 33 | c.79- others(50): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPARGC1B_chr5_149725310_149860022 | 149809293 | G | GATAGATA others(26): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 320 | 0.0031 | 33 | c.79- others(50): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPARGC1B_chr5_149725310_149860022 | 149809481 | G | GATAGATA others(26): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 320 | 0.0031 | 33 | c.79- others(50): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPFIA1_chr11_70265690_70389396 | 70277060 | A | ATATTATA others(26): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0163 | 1 | 282 | 0.0036 | 33 | c.264 others(50): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPFIBP2_chr11_7508999_7658756 | 7598885 | T | TTTGAAGA others(26): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00609.hp2 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(47): Show | 51 | 318 | 0.1604 | 33 | c.486 others(50): Show |
PPFIBP2 | ENSG00000166387.14 | transcript | ENST00000299492.9 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPHLN1_chr12_42321167_42447181 | 42360458 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0205 | 1 | 376 | 0.0027 | 33 | c.299 others(50): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPIAL4H_chr1_146339006_146349765 | 146345042 | C | CTTTCTTT others(26): Show |
upstream_gene_variant | MODIFIER | NA19003.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 416 | 0.0024 | 33 | c.-32 others(42): Show |
PPIAL4H | ENSG00000270339.4 | transcript | ENST00000584068.4 | protein_coding | 278 | chr1 | TogoVar | ||||||
PPM1E_chr17_58750854_58990179 | 58987591 | T | TATAAGGT others(26): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0176 | 1 | 312 | 0.0032 | 33 | c.*65 others(44): Show |
PPM1E | ENSG00000175175.6 | transcript | ENST00000308249.4 | protein_coding | 2413 | chr17 | TogoVar | ||||||
PPM1L_chr3_160751231_161083902 | 160835039 | A | ACTTCTTC others(26): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03139.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020a0001c0001t0033 | a0001c0001t0001g0135a0001c0001t0001g0138a0001c0001t0020g0171others(1): Show | 4 | 206 | 0.0194 | 33 | c.399 others(52): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPP1CB_chr2_28746830_28807940 | 28785065 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01981.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0031a0001c0002t0002g0032a0001c0002t0002g0067 | 3 | 366 | 0.0082 | 33 | c.592 others(50): Show |
PPP1CB | ENSG00000213639.11 | transcript | ENST00000395366.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PPP1R12B_chr1_202343699_202597702 | 202353997 | A | ATAGGCAA others(26): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0227 | 1 | 254 | 0.0039 | 33 | c.291 others(50): Show |
PPP1R12B | ENSG00000077157.23 | transcript | ENST00000608999.6 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PPP1R16A_chr8_144472982_144507121 | 144482480 | T | TGGGTTTA others(26): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(135): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(88): Show | 138 | 356 | 0.3876 | 33 | c.-91 others(52): Show |
PPP1R16A | ENSG00000160972.10 | transcript | ENST00000435887.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PPP1R16B_chr20_38800697_38928024 | 38855982 | A | AGAGAGAA others(26): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0017 | 1 | 244 | 0.0041 | 33 | c.250 others(52): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 2/10 | chr20 | TogoVar | ||||||
PPP2R2A_chr8_26286508_26377680 | 26287492 | G | GCTGGGGT others(26): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0195 | 1 | 340 | 0.0029 | 33 | c.-43 others(44): Show |
PPP2R2A | ENSG00000221914.11 | transcript | ENST00000380737.8 | protein_coding | 4015 | chr8 | TogoVar | ||||||
PPP2R2D_chr10_131896008_131964834 | 131901020 | C | CCGGCGGC others(26): Show |
5_prime_UTR_variant | MODIFIER | HG02922.hp1 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0107a0001c0001t0108 | a0001c0001t0107g0079a0001c0001t0108g0131 | 2 | 394 | 0.0051 | 33 | c.-10 others(42): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 1/9 | 102 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
PPP2R2D_chr10_131896008_131964834 | 131952690 | G | GGGGGTTC others(26): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0178 | 1 | 394 | 0.0025 | 33 | c.108 others(52): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP2R3A_chr3_135960728_136152894 | 136132117 | T | TCAAATCT others(26): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0010 | a0010c0009 | a0010c0009t0004 | a0010c0009t0004g0205 | 1 | 238 | 0.0042 | 33 | c.333 others(54): Show |
PPP2R3A | ENSG00000073711.11 | transcript | ENST00000264977.8 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPP2R3A_chr3_135960728_136152894 | 136137534 | A | ATTTTTTT others(26): Show |
intron_variant | MODIFIER | HG01433.hp2 NA20905.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0018a0003c0003t0001g0042 | 2 | 238 | 0.0084 | 33 | c.333 others(52): Show |
PPP2R3A | ENSG00000073711.11 | transcript | ENST00000264977.8 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPP2R5D_chr6_42979570_43017342 | 42984046 | G | GGCTTCCC others(26): Show |
upstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 306 | 0.0033 | 33 | c.-63 others(42): Show |
PPP2R5D | ENSG00000112640.16 | transcript | ENST00000485511.6 | protein_coding | 523 | chr6 | TogoVar | ||||||
PPP2R5E_chr14_63366364_63548377 | 63512860 | G | GTAAAAAC others(26): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0014 | 1 | 252 | 0.0040 | 33 | c.157 others(52): Show |
PPP2R5E | ENSG00000154001.14 | transcript | ENST00000337537.8 | protein_coding | 2/13 | chr14 | TogoVar | ||||||
PPP4R1_chr18_9541794_9619559 | 9605566 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 388 | 0.0026 | 33 | c.52+ others(48): Show |
PPP4R1 | ENSG00000154845.16 | transcript | ENST00000400556.8 | protein_coding | 2/19 | chr18 | TogoVar | ||||||
PPP4R1_chr18_9541794_9619559 | 9616832 | A | AAGGCGAG others(26): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 388 | 0.0026 | 33 | c.-23 others(44): Show |
PPP4R1 | ENSG00000154845.16 | transcript | ENST00000400556.8 | protein_coding | 2274 | chr18 | TogoVar | ||||||
PPP4R3A_chr14_91452508_91515310 | 91468667 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG00438.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203a0001c0001t0001g0343 | 2 | 370 | 0.0054 | 33 | c.166 others(52): Show |
PPP4R3A | ENSG00000100796.18 | transcript | ENST00000554943.6 | protein_coding | 10/14 | chr14 | TogoVar | ||||||
PPP6R1_chr19_55224779_55264017 | 55262709 | G | GGGGCCTG others(26): Show |
upstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0025 | 1 | 378 | 0.0027 | 33 | c.-43 others(44): Show |
PPP6R1 | ENSG00000105063.19 | transcript | ENST00000412770.7 | protein_coding | 3693 | chr19 | TogoVar | ||||||
PPP6R3_chr11_68455752_68620334 | 68478647 | G | GTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02970.hp1 |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0015 | a0002c0002t0007g0152a0002c0002t0015g0024 | 2 | 252 | 0.0079 | 33 | c.-15 others(54): Show |
PPP6R3 | ENSG00000110075.15 | transcript | ENST00000393800.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPWD1_chr5_65558296_65592549 | 65573476 | T | TATATATA others(26): Show |
intron_variant | MODIFIER | NA18963.hp2 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072a0001c0001t0001g0266 | 2 | 384 | 0.0052 | 33 | c.969 others(50): Show |
PPWD1 | ENSG00000113593.12 | transcript | ENST00000261308.10 | protein_coding | 5/10 | chr5 | TogoVar | ||||||
PQBP1_chrX_48892930_48908143 | 48906140 | C | CTTATCTG others(26): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 307 | 0.0033 | 33 | c.*30 others(44): Show |
PQBP1 | ENSG00000102103.18 | transcript | ENST00000447146.7 | protein_coding | 2998 | chrX | TogoVar | ||||||
PRAMEF14_chr1_13336892_13352134 | 13349130 | A | AAGAAAGA others(26): Show |
upstream_gene_variant | MODIFIER | NA19055.hp1 | a0000 | a0000c0011 | a0000c0011t0001 | a0000c0011t0001g0056 | 1 | 256 | 0.0039 | 33 | c.-21 others(44): Show |
PRAMEF14 | ENSG00000204481.8 | transcript | ENST00000334600.7 | protein_coding | 1997 | chr1 | TogoVar | ||||||
PRAMEF8_chr1_13276304_13290137 | 13286186 | G | GAGGGAGG others(26): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0003 | 1 | 332 | 0.0030 | 33 | c.-11 others(44): Show |
PRAMEF8 | ENSG00000182330.11 | transcript | ENST00000357367.7 | protein_coding | 1050 | chr1 | TogoVar | ||||||
PRB2_chr12_11386540_11400567 | 11393924 | A | ACTGGAGA others(26): Show |
conservative_inframe_insertion | MODERATE | NA18944.hp1 | a0013 | a0013c0037 | a0013c0037t0002 | a0013c0037t0002g0082 | 1 | 410 | 0.0024 | 33 | c.153 others(40): Show |
p.Pro others(44): Show |
PRB2 | ENSG00000121335.12 | transcript | ENST00000389362.6 | protein_coding | 3/4 | 191/1431 | 153/1251 | 51/416 | chr12 | TogoVar | ||
PRDM12_chr9_130659594_130687983 | 130680659 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0130 | 1 | 392 | 0.0026 | 33 | c.683 others(48): Show |
PRDM12 | ENSG00000130711.5 | transcript | ENST00000253008.3 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRDM12_chr9_130659594_130687983 | 130680659 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0272 | 1 | 392 | 0.0026 | 33 | c.683 others(48): Show |
PRDM12 | ENSG00000130711.5 | transcript | ENST00000253008.3 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRDM12_chr9_130659594_130687983 | 130680659 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0052 | 1 | 392 | 0.0026 | 33 | c.683 others(48): Show |
PRDM12 | ENSG00000130711.5 | transcript | ENST00000253008.3 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3180721 | C | CCAGACAG others(26): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00735.hp2 others(21): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(17): Show | a0001c0001t0001g0006a0001c0001t0001g0150a0001c0001t0008g0064others(21): Show | 24 | 210 | 0.1143 | 33 | c.38- others(48): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3361934 | C | CGGCCCAG others(26): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0017 | a0001c0017t0054 | a0001c0017t0054g0134 | 1 | 210 | 0.0048 | 33 | c.439 others(52): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |