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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TWIST2_chr2_238843085_238915534 | 238870128 | A | ACACCACA others(594): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0116 | 1 | 338 | 0.0030 | 601 | c.*35 others(620): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870189 | A | ACACCCCA others(594): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 338 | 0.0030 | 601 | c.*35 others(620): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TXNDC16_chr14_52425596_52557505 | 52530454 | A | ATAATTAT others(594): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 238 | 0.0042 | 601 | c.392 others(618): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131918730 | G | GGGGTGTG others(594): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 344 | 0.0029 | 601 | c.251 others(616): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
VCX2_chrX_8164944_8176267 | 8169173 | T | TCCCTCCC others(594): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0014 | a0014c0029 | a0014c0029t0001 | a0014c0029t0001g0057 | 1 | 115 | 0.0087 | 601 | c.*85 others(610): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 770 | chrX | TogoVar | ||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(594): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0057 | 1 | 302 | 0.0033 | 601 | c.-1- others(618): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(594): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0156 | 1 | 302 | 0.0033 | 601 | c.-1- others(618): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(594): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0163 | 1 | 302 | 0.0033 | 601 | c.-1- others(618): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(594): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02809.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0029a0001c0001t0032 | a0001c0001t0002g0154a0001c0001t0029g0153a0001c0001t0032g0069 | 3 | 302 | 0.0099 | 601 | c.-1- others(618): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZFPM1_chr16_88448280_88542031 | 88460942 | T | TGACCGAG others(594): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0032 | 1 | 318 | 0.0031 | 601 | c.40+ others(616): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(594): Show |
upstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 383 | 0.0026 | 601 | c.-42 others(612): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975303 | T | TTATAGAT others(595): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0004 | a0004c0023 | a0004c0023t0001 | a0004c0023t0001g0096 | 1 | 306 | 0.0033 | 602 | c.130 others(621): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ACTRT2_chr1_3016467_3027903 | 3016686 | A | AGGGACGG others(595): Show |
upstream_gene_variant | MODIFIER | NA19012.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 366 | 0.0055 | 602 | c.-50 others(613): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4780 | chr1 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 906610 | A | AAAGGAGA others(595): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 14 | 0.0714 | 602 | c.389 others(619): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235598025 | T | TTGTGTGG others(595): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0043a0001c0005t0004 | a0001c0002t0043g0064a0001c0005t0004g0097 | 2 | 98 | 0.0204 | 602 | c.163 others(623): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ARHGAP39_chr8_144524179_144690846 | 144687581 | A | ACCCCCGT others(595): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0005 | 1 | 246 | 0.0041 | 602 | c.-19 others(613): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1736 | chr8 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687691 | C | CGTGACCA others(595): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0239 | 1 | 246 | 0.0041 | 602 | c.-20 others(613): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1846 | chr8 | TogoVar | ||||||
BIRC7_chr20_63230905_63245495 | 63235400 | A | AAGTGAGG others(595): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0010 | 1 | 300 | 0.0033 | 602 | c.-69 others(611): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 504 | chr20 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122484490 | T | TAAAAATT others(595): Show |
intron_variant | MODIFIER | HG01167.hp1 HG03209.hp1 HG03669.hp2 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(1): Show | a0001c0002t0002g0060a0001c0002t0003g0116a0001c0002t0007g0086others(1): Show | 4 | 126 | 0.0318 | 602 | c.185 others(621): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 11/29 | chr7 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88894454 | G | GCACACAT others(595): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 284 | 0.0035 | 602 | c.380 others(619): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | ||||||
CCDC57_chr17_82096470_82217842 | 82148365 | G | GTGGGTGG others(595): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01106.hp2 others(21): Show |
a0003a0020 | a0003c0004a0020c0028 | a0003c0004t0003a0020c0028t0003 | a0003c0004t0003g0077a0003c0004t0003g0078a0003c0004t0003g0079others(21): Show | 24 | 252 | 0.0952 | 602 | c.245 others(621): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 15/18 | chr17 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293509 | C | CTCACCTT others(595): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0250 | 1 | 284 | 0.0035 | 602 | c.411 others(619): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(595): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 | 1 | 236 | 0.0042 | 602 | c.342 others(623): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(595): Show |
intron_variant | MODIFIER | HG02258.hp1 NA19043.hp2 |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0003a0007c0010t0003 | a0001c0001t0003g0052a0007c0010t0003g0131 | 2 | 236 | 0.0085 | 602 | c.342 others(623): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CHODL_chr21_18239833_18272370 | 18251498 | A | ATATTTAT others(595): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 402 | 0.0025 | 602 | c.80- others(617): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL4A1_chr13_110143963_110312157 | 110255668 | C | CAGGAAGG others(595): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0179 | 1 | 344 | 0.0029 | 602 | c.85- others(619): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110497817 | C | CAGCTTCA others(595): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02723.hp2 HG03209.hp1 others(1): Show |
a0001a0002a0003 | a0001c0046a0002c0019a0003c0039others(1): Show | a0001c0046t0034a0002c0019t0004a0003c0039t0008others(1): Show | a0001c0046t0034g0007a0002c0019t0004g0365a0003c0039t0008g0027others(1): Show | 4 | 372 | 0.0108 | 602 | c.376 others(621): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 40/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110497817 | C | CAGCTTCA others(595): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0007 | a0007c0059 | a0007c0059t0024 | a0007c0059t0024g0252 | 1 | 372 | 0.0027 | 602 | c.376 others(621): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 40/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CSMD1_chr8_2930361_4999914 | 3558313 | C | CCAATGAT others(595): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0017 | 1 | 126 | 0.0079 | 602 | c.134 others(623): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3558367 | T | TGGTGCCT others(595): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0084 | a0002c0084t0018 | a0002c0084t0018g0087 | 1 | 126 | 0.0079 | 602 | c.134 others(623): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(595): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 | 1 | 216 | 0.0046 | 602 | c.923 others(621): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DDX50_chr10_68896315_68951847 | 68926144 | T | TTCCAGCC others(595): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG01192.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0242a0001c0001t0001g0261a0001c0001t0001g0262others(7): Show | 10 | 334 | 0.0299 | 602 | c.123 others(621): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DDX50_chr10_68896315_68951847 | 68926144 | T | TTCCAGCC others(595): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02280.hp1 others(11): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001a0001c0005t0002 | a0001c0002t0001g0243a0001c0002t0001g0263a0001c0002t0001g0264others(11): Show | 14 | 334 | 0.0419 | 602 | c.123 others(621): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DDX50_chr10_68896315_68951847 | 68926144 | T | TTCCAGCC others(595): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 334 | 0.0030 | 602 | c.123 others(621): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DDX50_chr10_68896315_68951847 | 68926144 | T | TTCCAGCC others(595): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03041.hp2 NA18522.hp1 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0237a0002c0004t0001g0238a0002c0004t0001g0239others(2): Show | 5 | 334 | 0.0150 | 602 | c.123 others(621): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DDX50_chr10_68896315_68951847 | 68926144 | T | TTCCAGCC others(595): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01070.hp2 NA18946.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0147a0001c0002t0001g0285a0001c0002t0001g0301 | 3 | 334 | 0.0090 | 602 | c.123 others(621): Show |
DDX50 | ENSG00000107625.14 | transcript | ENST00000373585.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DNAJC4_chr11_64225548_64239281 | 64237126 | G | GAGAGGGA others(595): Show |
downstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | 602 | c.*29 others(613): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2846 | chr11 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29131600 | T | TCACACAC others(595): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02818.hp2 |
a0001a0002 | a0001c0008a0002c0005 | a0001c0008t0007a0002c0005t0020 | a0001c0008t0007g0039a0002c0005t0020g0028 | 2 | 125 | 0.0160 | 602 | c.928 others(619): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 7/10 | chr15 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137328236 | T | TATACCCA others(595): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(14): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(6): Show | a0001c0001t0001g0010a0001c0001t0001g0060a0001c0001t0001g0061others(14): Show | 17 | 82 | 0.2073 | 602 | c.199 others(621): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
FKBP2_chr11_64236095_64249132 | 64237126 | G | GAGAGGGA others(595): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 332 | 0.0030 | 602 | c.-40 others(613): Show |
FKBP2 | ENSG00000173486.14 | transcript | ENST00000309366.9 | protein_coding | 3968 | chr11 | TogoVar | ||||||
FLT3_chr13_27998274_28105576 | 27998891 | T | TATTTATA others(595): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 292 | 0.0034 | 602 | c.*51 others(613): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4382 | chr13 | TogoVar | ||||||
FLT3_chr13_27998274_28105576 | 27999111 | A | ATGTATGT others(595): Show |
downstream_gene_variant | MODIFIER | NA18979.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0231 | 1 | 292 | 0.0034 | 602 | c.*49 others(613): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4162 | chr13 | TogoVar | ||||||
GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(595): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 282 | 0.0036 | 602 | c.684 others(615): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(595): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0184 | 1 | 282 | 0.0036 | 602 | c.684 others(615): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(595): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 282 | 0.0036 | 602 | c.684 others(615): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IGSF9B_chr11_133891438_133961968 | 133932577 | G | GACAGACA others(595): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0007 | a0002c0007t0031 | a0002c0007t0031g0029 | 1 | 362 | 0.0028 | 602 | c.968 others(617): Show |
IGSF9B | ENSG00000080854.16 | transcript | ENST00000533871.8 | protein_coding | 7/19 | chr11 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(595): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00597.hp2 others(96): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0003a0001c0004others(21): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0043others(46): Show | a0001c0002t0002g0001a0001c0002t0002g0039a0001c0002t0002g0096others(95): Show | 99 | 282 | 0.3511 | 602 | c.623 others(619): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(595): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0179 | 1 | 282 | 0.0036 | 602 | c.623 others(619): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(595): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0123 | 1 | 282 | 0.0036 | 602 | c.623 others(619): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(595): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0070 | 1 | 282 | 0.0036 | 602 | c.623 others(619): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |