view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TERT_chr5_1248167_1300068 | 1291227 | C | CGCCTCAC others(791): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00558.hp1 others(66): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0120 a0001c0001t0001g0121 others(64): Show |
69 | 368 | 0.1875 | 798 | c.157 others(817): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1291227 | C | CGCCTCAC others(791): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 |
a0001 | a0001c0001a0001c0025 | a0001c0001t0002a0001c0025t0001 | a0001c0001t0002g0376 a0001c0025t0001g0383 |
2 | 301 | 0.0066 | 798 | c.157 others(817): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1291463 | G | GGACACCC others(791): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 386 | 0.0026 | 798 | c.157 others(817): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
TFPT_chr19_54102020_54120657 | 54109797 | C | CTCCACCC others(791): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 184 | 0.0054 | 798 | c.353 others(813): Show |
TFPT | ENSG00000105619.14 | transcript | ENST00000391759.6 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
TFPT_chr19_54102020_54120657 | 54109797 | C | CTCCACCC others(791): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 184 | 0.0054 | 798 | c.353 others(813): Show |
TFPT | ENSG00000105619.14 | transcript | ENST00000391759.6 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
TMC6_chr17_78102397_78133755 | 78115618 | A | AGCGAAGG others(791): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0026 | 1 | 188 | 0.0053 | 798 | c.227 others(817): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
TMC6_chr17_78102397_78133755 | 78115891 | G | GGCGAAGG others(791): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0005 | a0001c0005t0080 | a0001c0005t0080g0313 | 1 | 425 | 0.0024 | 798 | c.227 others(817): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
TMEM132C_chr12_128262170_128712911 | 128292999 | A | AAAATGTG others(791): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0008 | a0008c0024 | a0008c0024t0002 | a0008c0024t0002g0087 | 1 | 165 | 0.0061 | 798 | c.85+ others(815): Show |
TMEM132C | ENSG00000181234.10 | transcript | ENST00000435159.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TNFRSF18_chr1_1198508_1211592 | 1202512 | C | CCTCCAGC others(791): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 2 | 381 | 0.0052 | 798 | c.*13 others(809): Show |
TNFRSF18 | ENSG00000186891.14 | transcript | ENST00000379268.7 | protein_coding | 995 | chr1 | TogoVar | |||||||
TTLL10_chr1_1168880_1202936 | 1202512 | C | CCTCCAGC others(791): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0007 | a0007c0007 | a0007c0007t0003 | a0007c0007t0003g0158 | 1 | 377 | 0.0027 | 798 | c.*46 others(809): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 4577 | chr1 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52530465 | T | TAATAATA others(791): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 83 | 0.0120 | 798 | c.392 others(815): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
VEGFB_chr11_64229584_64244264 | 64237115 | G | GGGAGAGG others(791): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 318 | 0.0031 | 798 | c.375 others(811): Show |
VEGFB | ENSG00000173511.10 | transcript | ENST00000309422.7 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(791): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0286 | 1 | 44 | 0.0227 | 798 | c.-1- others(815): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZFYVE28_chr4_2264597_2423645 | 2299660 | G | GGGAAAGG others(791): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0048 | 1 | 72 | 0.0139 | 798 | c.205 others(817): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 8/12 | chr4 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15999866 | C | CCTTCCTT others(792): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0201 | 1 | 209 | 0.0048 | 799 | c.49- others(814): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100011336 | G | GGGAAGGA others(792): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0071 | 1 | 204 | 0.0049 | 799 | c.259 others(820): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADGRD1_chr12_130948907_131146469 | 131046716 | C | CCCTCCCT others(792): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 239 | 0.0042 | 799 | c.147 others(820): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(792): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0051 | a0001c0003t0051g0311 | 1 | 110 | 0.0091 | 799 | c.352 others(816): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(792): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0307 | 1 | 110 | 0.0091 | 799 | c.352 others(816): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33894705 | C | CAGGCTGA others(792): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01192.hp2 HG02602.hp1 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0002 a0003c0003t0003g0011 a0003c0003t0003g0012 |
3 | 9 | 0.3333 | 799 | c.446 others(818): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33894705 | C | CAGGCTGA others(792): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(183): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0012a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 others(182): Show |
186 | 192 | 0.9688 | 799 | c.446 others(818): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33894705 | C | CAGGCTGA others(792): Show |
intron_variant | MODIFIER | NA18953.hp2 NA19082.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0136 a0002c0002t0001g0143 |
2 | 8 | 0.2500 | 799 | c.446 others(818): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44181824 | C | CCACACTC others(792): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 265 | 0.0038 | 799 | c.193 others(816): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(792): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 | 1 | 38 | 0.0263 | 799 | c.248 others(816): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(792): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 NA18947.hp1 others(13): Show |
a0002a0012 | a0002c0003a0012c0012 | a0002c0003t0003a0002c0003t0007a0002c0003t0029others(1): Show | a0002c0003t0003g0002 a0002c0003t0003g0013 a0002c0003t0003g0015 others(13): Show |
16 | 53 | 0.3019 | 799 | c.248 others(816): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(792): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG02071.hp2 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0007a0002c0003t0029others(1): Show | a0002c0003t0003g0118 a0002c0003t0003g0120 a0002c0003t0003g0125 others(5): Show |
8 | 45 | 0.1778 | 799 | c.248 others(816): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(792): Show |
intron_variant | MODIFIER | HG03239.hp2 HG04228.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0123 a0002c0003t0003g0124 |
2 | 39 | 0.0513 | 799 | c.248 others(816): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58786706 | T | TAAGATAT others(792): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0013 | 1 | 150 | 0.0067 | 799 | c.223 others(820): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(792): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 2 | 0.5000 | 799 | c.138 others(818): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(792): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 2 | 0.5000 | 799 | c.138 others(818): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(792): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0257 | 1 | 2 | 0.5000 | 799 | c.138 others(818): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(792): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18944.hp2 NA18945.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0245 a0001c0003t0003g0258 a0001c0003t0003g0269 others(4): Show |
7 | 8 | 0.8750 | 799 | c.138 others(818): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(792): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0282 |
2 | 94 | 0.0213 | 799 | c.*65 others(810): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(792): Show |
downstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 93 | 0.0108 | 799 | c.*65 others(810): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(792): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 NA18944.hp2 NA18945.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0014 a0002c0002t0003g0028 a0002c0002t0003g0148 others(2): Show |
7 | 99 | 0.0707 | 799 | c.*65 others(810): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133730 | T | TCCTCTCT others(792): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 219 | 0.0046 | 799 | c.-43 others(810): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 4031 | chr19 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62875260 | G | GCACCCGC others(792): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 86 | 0.0116 | 799 | c.*39 others(810): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2482 | chr20 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55446361 | A | ACTCCTCA others(792): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 330 | 0.0030 | 799 | c.783 others(816): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar | |||||||
DOK7_chr4_3458306_3499482 | 3476128 | T | TCATGATG others(792): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0101 | 1 | 373 | 0.0027 | 799 | c.332 others(814): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716419 | T | TTGGTGTC others(792): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0160 | 1 | 112 | 0.0089 | 799 | c.86- others(812): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3331228 | T | TAGTGTCA others(792): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 | 1 | 92 | 0.0109 | 799 | c.259 others(816): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3331228 | T | TAGTGTCA others(792): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0080 |
2 | 93 | 0.0215 | 799 | c.259 others(816): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
F2_chr11_46714213_46744506 | 46721842 | T | TTTTTTTT others(792): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0185 | 1 | 346 | 0.0029 | 799 | c.316 others(816): Show |
F2 | ENSG00000180210.15 | transcript | ENST00000311907.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAM118B_chr11_126206782_126267968 | 126226100 | A | AAGGCCAG others(792): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02055.hp1 HG02109.hp1 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0070 a0001c0001t0001g0187 a0001c0001t0001g0193 others(10): Show |
13 | 43 | 0.3023 | 799 | c.-76 others(816): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946669 | T | TATATATA others(792): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0328 | 1 | 217 | 0.0046 | 799 | c.617 others(816): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(792): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 12 | 0.0833 | 799 | c.617 others(816): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(792): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0046 | 1 | 132 | 0.0076 | 799 | c.94- others(812): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239124755 | T | TGTTATGT others(792): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0145 | 1 | 18 | 0.0556 | 799 | c.153 others(818): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 12/26 | chr2 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323165 | A | ATATATAT others(792): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 320 | 0.0031 | 799 | c.-18 others(810): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1804 | chr21 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 163272 | C | CCCTCCCT others(792): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0178 | 1 | 213 | 0.0047 | 799 | c.258 others(816): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |