| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SLC2A5_chr1_9030106_9074635 | 9053455 | A | ATATATAT others(239): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0242 | 1 | 336 | 0.0030 | 246 | c.293 others(263): Show |
SLC2A5 | ENSG00000142583.18 | transcript | ENST00000377424.9 | protein_coding | 3/11 | chr1 | TogoVar | ||||||
| SLC35F1_chr6_117902264_118322671 | 117923761 | A | ATATGTAT others(239): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0068 | 1 | 182 | 0.0055 | 246 | c.173 others(265): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(239): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0014 | a0002c0014t0009 | a0002c0014t0009g0098 | 1 | 346 | 0.0029 | 246 | c.-70 others(263): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
| SLC38A9_chr5_55620848_55717324 | 55696693 | C | CGGGGGGC others(239): Show |
intron_variant | MODIFIER | NA19002.hp2 NA19088.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0211a0002c0002t0001g0323 | 2 | 350 | 0.0057 | 246 | c.113 others(263): Show |
SLC38A9 | ENSG00000177058.12 | transcript | ENST00000396865.7 | protein_coding | 3/15 | chr5 | TogoVar | ||||||
| SLC45A1_chr1_8313114_8349165 | 8344892 | A | ACATATCC others(239): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 388 | 0.0026 | 246 | c.*87 others(255): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 728 | chr1 | TogoVar | ||||||
| SLC46A2_chr9_112873920_112895876 | 112895773 | C | CCATCATC others(239): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02451.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0027a0001c0003t0003g0209 | 5 | 446 | 0.0112 | 246 | c.-50 others(257): Show |
SLC46A2 | ENSG00000119457.8 | transcript | ENST00000374228.5 | protein_coding | 4898 | chr9 | TogoVar | ||||||
| SMOC2_chr6_168436184_168672992 | 168654473 | T | TACCTGAG others(239): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03139.hp2 HG03209.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0131a0001c0002t0002g0004a0001c0002t0002g0034 | 3 | 180 | 0.0167 | 246 | c.128 others(265): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SPATC1L_chr21_46156160_46189459 | 46161025 | G | GTGGAGGG others(239): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0057 | 1 | 251 | 0.0040 | 246 | c.*35 others(255): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 134 | chr21 | TogoVar | ||||||
| SPDYE4_chr17_8745853_8763546 | 8746874 | C | CCCTTCCC others(239): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 246 | c.*54 others(257): Show |
SPDYE4 | ENSG00000183318.12 | transcript | ENST00000689094.1 | protein_coding | 3978 | chr17 | TogoVar | ||||||
| SPDYE4_chr17_8745853_8763546 | 8746874 | C | CCCTTCCC others(239): Show |
downstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 418 | 0.0024 | 246 | c.*54 others(257): Show |
SPDYE4 | ENSG00000183318.12 | transcript | ENST00000689094.1 | protein_coding | 3978 | chr17 | TogoVar | ||||||
| SPDYE4_chr17_8745853_8763546 | 8746874 | C | CCCTTCCC others(239): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 246 | c.*54 others(257): Show |
SPDYE4 | ENSG00000183318.12 | transcript | ENST00000689094.1 | protein_coding | 3978 | chr17 | TogoVar | ||||||
| SPDYE4_chr17_8745853_8763546 | 8746874 | C | CCCTTCCC others(239): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 418 | 0.0024 | 246 | c.*54 others(257): Show |
SPDYE4 | ENSG00000183318.12 | transcript | ENST00000689094.1 | protein_coding | 3978 | chr17 | TogoVar | ||||||
| SPTSSA_chr14_34427788_34467240 | 34443514 | T | TGTGTGTG others(239): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 344 | 0.0029 | 246 | c.113 others(263): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
| SRGAP1_chr12_63839700_64167217 | 63963270 | C | CCACGAAG others(239): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0006 | a0001c0006t0084 | a0001c0006t0084g0018 | 1 | 170 | 0.0059 | 246 | c.68- others(263): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ST3GAL1_chr8_133449848_133576887 | 133540782 | T | TATATATA others(239): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0299 | 1 | 332 | 0.0030 | 246 | c.-42 others(265): Show |
ST3GAL1 | ENSG00000008513.17 | transcript | ENST00000522652.6 | protein_coding | 2/9 | chr8 | TogoVar | ||||||
| STK32B_chr4_5046480_5505989 | 5064433 | C | CATATAAT others(239): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 170 | 0.0059 | 246 | c.52+ others(263): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SVEP1_chr9_110360248_110584741 | 110390341 | T | TTATATAT others(239): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0085 | a0085c0146 | a0085c0146t0004 | a0085c0146t0004g0052 | 1 | 362 | 0.0028 | 246 | c.982 others(263): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 40/47 | chr9 | TogoVar | ||||||
| SYK_chr9_90796819_90903549 | 90884250 | C | CATACACA others(239): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 NA18522.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015a0001c0001t0071 | a0001c0001t0002g0239a0001c0001t0015g0086a0001c0001t0015g0167others(2): Show | 5 | 376 | 0.0133 | 246 | c.158 others(265): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| TBC1D2B_chr15_77989985_78082711 | 77992793 | C | CCCCACTC others(239): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0178 | 1 | 280 | 0.0036 | 246 | c.*53 others(257): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 2191 | chr15 | TogoVar | ||||||
| TBC1D2B_chr15_77989985_78082711 | 77992794 | C | CCCCACTC others(239): Show |
downstream_gene_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0166 | 1 | 280 | 0.0036 | 246 | c.*53 others(257): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 2190 | chr15 | TogoVar | ||||||
| TENM4_chr11_78647829_79446030 | 79139785 | T | TTATATTT others(239): Show |
intron_variant | MODIFIER | HG02922.hp1 NA18906.hp2 |
a0001a0003 | a0001c0011a0003c0010 | a0001c0011t0047a0003c0010t0009 | a0001c0011t0047g0066a0003c0010t0009g0024 | 2 | 94 | 0.0213 | 246 | c.-66 others(263): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 4/33 | chr11 | TogoVar | ||||||
| TENM4_chr11_78647829_79446030 | 79139785 | T | TTATATTT others(239): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0034 | a0001c0034t0017 | a0001c0034t0017g0089 | 1 | 94 | 0.0106 | 246 | c.-66 others(263): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 4/33 | chr11 | TogoVar | ||||||
| TERT_chr5_1248167_1300068 | 1273699 | C | CCACACAT others(239): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 392 | 0.0026 | 246 | c.228 others(265): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
| TERT_chr5_1248167_1300068 | 1273699 | C | CCACACAT others(239): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG00738.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0160a0001c0001t0001g0181a0001c0001t0002g0348others(3): Show | 6 | 392 | 0.0153 | 246 | c.228 others(265): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
| TIAM2_chr6_154990315_155262723 | 155029448 | G | GTATATAT others(239): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0024 | a0002c0024t0017 | a0002c0024t0017g0179 | 1 | 230 | 0.0044 | 246 | c.-20 others(267): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| TIGIT_chr3_114289028_114315288 | 114303630 | T | TATACATA others(239): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0069 | 1 | 424 | 0.0024 | 246 | c.498 others(263): Show |
TIGIT | ENSG00000181847.12 | transcript | ENST00000383671.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| TMEM178B_chr7_141069064_141485380 | 141337017 | T | TCACCACC others(239): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0019 | a0001c0003t0019g0070 | 1 | 80 | 0.0125 | 246 | c.497 others(267): Show |
TMEM178B | ENSG00000261115.7 | transcript | ENST00000565468.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| TMEM51_chr1_15148747_15225478 | 15225218 | G | GGGGGAGG others(239): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0140 | 1 | 298 | 0.0034 | 246 | c.*54 others(257): Show |
TMEM51 | ENSG00000171729.14 | transcript | ENST00000376008.3 | protein_coding | 4741 | chr1 | TogoVar | ||||||
| TMEM65_chr8_124301189_124377701 | 124302651 | T | TTATATAT others(239): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 NA18950.hp2 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0030 | a0001c0001t0006g0107a0001c0001t0030g0178a0001c0001t0030g0186 | 3 | 348 | 0.0086 | 246 | c.*11 others(259): Show |
TMEM65 | ENSG00000164983.9 | transcript | ENST00000297632.8 | protein_coding | 3537 | chr8 | TogoVar | ||||||
| TMPRSS2_chr21_41459305_41513158 | 41474669 | G | GGGGTGAG others(239): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0066 | 1 | 382 | 0.0026 | 246 | c.728 others(263): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | ||||||
| TMTC2_chr12_82681906_83139866 | 82997352 | A | ATATATAT others(239): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0076 | 1 | 96 | 0.0104 | 246 | c.207 others(267): Show |
TMTC2 | ENSG00000179104.9 | transcript | ENST00000321196.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TMTC2_chr12_82681906_83139866 | 82997352 | A | ATATATAT others(239): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 96 | 0.0104 | 246 | c.207 others(267): Show |
TMTC2 | ENSG00000179104.9 | transcript | ENST00000321196.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TMTC2_chr12_82681906_83139866 | 82997370 | A | ATATATAT others(239): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0005 | 1 | 96 | 0.0104 | 246 | c.207 others(267): Show |
TMTC2 | ENSG00000179104.9 | transcript | ENST00000321196.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TNNT1_chr19_55127698_55154206 | 55134791 | A | AGGGGAGG others(239): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00597.hp2 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0087a0001c0001t0001g0114a0001c0001t0001g0125others(52): Show | 60 | 320 | 0.1875 | 246 | c.612 others(261): Show |
TNNT1 | ENSG00000105048.18 | transcript | ENST00000588981.6 | protein_coding | 11/13 | chr19 | TogoVar | ||||||
| TP53AIP1_chr11_128930370_128947871 | 128930543 | G | GGGGTTAG others(239): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0100 | 1 | 466 | 0.0022 | 246 | c.*50 others(257): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4826 | chr11 | TogoVar | ||||||
| TPD52_chr8_80029745_80176564 | 80072685 | G | GCGTGTAT others(239): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01255.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076a0001c0001t0001g0078a0001c0001t0001g0213 | 3 | 228 | 0.0132 | 246 | c.20- others(261): Show |
TPD52 | ENSG00000076554.16 | transcript | ENST00000518937.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
| TRAF6_chr11_36478769_36515272 | 36507571 | A | ATATACAT others(239): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02083.hp1 HG02155.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0038 | a0001c0001t0001g0029a0001c0001t0038g0221 | 3 | 388 | 0.0077 | 246 | c.-23 others(263): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
| TRAPPC9_chr8_139722725_140462744 | 140157273 | T | TTTCCATT others(239): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01255.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0058a0001c0003t0003g0045 | 2 | 98 | 0.0204 | 246 | c.255 others(267): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 17/22 | chr8 | TogoVar | ||||||
| TRIML1_chr4_188134441_188152743 | 188151871 | A | AGAGTGGG others(239): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 228 | 0.0044 | 246 | c.*44 others(257): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4129 | chr4 | TogoVar | ||||||
| TRPC4AP_chr20_34997404_35097807 | 35097556 | T | TATATACA others(239): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 334 | 0.0030 | 246 | c.-47 others(257): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 4750 | chr20 | TogoVar | ||||||
| TRPC4AP_chr20_34997404_35097807 | 35097565 | A | ATGTGTGT others(239): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0184 | 1 | 334 | 0.0030 | 246 | c.-47 others(257): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 4759 | chr20 | TogoVar | ||||||
| TSHZ2_chr20_52967358_53500330 | 53204263 | G | GATACTAT others(239): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0137 | 1 | 174 | 0.0058 | 246 | c.41- others(263): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| TSNARE1_chr8_142207080_142408182 | 142241997 | T | TGCCGTAT others(239): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0193 | 1 | 238 | 0.0042 | 246 | c.144 others(267): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
| TSNARE1_chr8_142207080_142408182 | 142256385 | T | TCACCACC others(239): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01884.hp1 HG02723.hp1 others(6): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0005c0005others(3): Show | a0001c0001t0002a0002c0002t0001a0005c0005t0002others(3): Show | a0001c0001t0002g0023a0002c0002t0001g0089a0002c0002t0001g0183others(6): Show | 9 | 238 | 0.0378 | 246 | c.144 others(267): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
| TSNARE1_chr8_142207080_142408182 | 142390541 | T | TGGGGACT others(239): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0131 | 1 | 238 | 0.0042 | 246 | c.-40 others(265): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 1/13 | chr8 | TogoVar | ||||||
| TUBB3_chr16_89918342_89941097 | 89934211 | C | TCTGTGTC others(239): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 398 | 0.0025 | 246 | c.278 others(261): Show |
TUBB3 | ENSG00000258947.8 | transcript | ENST00000315491.12 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
| TULP4_chr6_158307465_158516828 | 158331720 | C | CGTATATA others(239): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0006 | 1 | 268 | 0.0037 | 246 | c.252 others(265): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | chr6 | TogoVar | ||||||
| TWIST2_chr2_238843085_238915534 | 238870316 | C | CCCCCCAC others(239): Show |
intron_variant | MODIFIER | HG02300.hp1 NA18952.hp2 NA19068.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0038a0001c0001t0001g0147a0001c0001t0002g0021others(1): Show | 4 | 338 | 0.0118 | 246 | c.*35 others(265): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TWIST2_chr2_238843085_238915534 | 238870989 | A | ACCCCACA others(239): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 338 | 0.0030 | 246 | c.*35 others(265): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TWIST2_chr2_238843085_238915534 | 238870989 | A | ACCCCACA others(239): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 338 | 0.0030 | 246 | c.*35 others(265): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |