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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMEM163_chr2_134450759_134724000 | 134607357 | G | GACAGACC others(405): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0130 | 1 | 222 | 0.0045 | 412 | c.323 others(431): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930542 | G | GGGGTTAG others(405): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 466 | 0.0022 | 412 | c.*50 others(423): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4827 | chr11 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1422316 | A | AGACCTCG others(405): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0123 | 1 | 130 | 0.0077 | 412 | c.95- others(425): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TRIM2_chr4_153199443_153344317 | 153222058 | A | AAGGAAGG others(405): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0214 | 1 | 268 | 0.0037 | 412 | c.30+ others(429): Show |
TRIM2 | ENSG00000109654.16 | transcript | ENST00000338700.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(405): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 334 | 0.0030 | 412 | c.657 others(427): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TTN_chr2_178520989_178812423 | 178757157 | A | ACAGTAAG others(405): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0012 | a0012c0020 | a0012c0020t0001 | a0012c0020t0001g0019 | 1 | 242 | 0.0041 | 412 | c.106 others(431): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 45/362 | chr2 | TogoVar | ||||||
TTN_chr2_178739405_178812423 | 178757157 | A | ACAGTAAG others(405): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0020 | a0020c0031 | a0020c0031t0003 | a0020c0031t0003g0057 | 1 | 370 | 0.0027 | 412 | c.103 others(433): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 44/45 | chr2 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222092 | C | CCATCACC others(405): Show |
downstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 360 | 0.0028 | 412 | c.*26 others(423): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 2184 | chr6 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870135 | C | CAAACCAC others(405): Show |
intron_variant | MODIFIER | NA18968.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070a0001c0001t0002g0282 | 2 | 338 | 0.0059 | 412 | c.*35 others(431): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370525 | G | GCGTGTGT others(405): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0391 | 1 | 468 | 0.0021 | 412 | c.-6- others(427): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | chr10 | TogoVar | ||||||
UNC5C_chr4_95157504_95553973 | 95196757 | A | ATATATTT others(405): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0022 | 1 | 204 | 0.0049 | 412 | c.213 others(431): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2842868 | A | AGATAGAT others(405): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0344 | 1 | 408 | 0.0025 | 412 | c.53+ others(427): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
WDR64_chr1_241647281_241807777 | 241675092 | T | TCCTCCCT others(405): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0003 | 1 | 326 | 0.0031 | 412 | c.483 others(427): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(405): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0212a0001c0002t0003g0213 | 2 | 326 | 0.0061 | 412 | c.483 others(427): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(405): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0003 | a0003c0024 | a0003c0024t0003 | a0003c0024t0003g0014 | 1 | 326 | 0.0031 | 412 | c.483 others(427): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(405): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02818.hp2 |
a0001a0002 | a0001c0014a0002c0012 | a0001c0014t0003a0002c0012t0004 | a0001c0014t0003g0060a0002c0012t0004g0154 | 2 | 326 | 0.0061 | 412 | c.483 others(427): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZFPM1_chr16_88448280_88542031 | 88460982 | G | GGCGGGGC others(405): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0007 | a0007c0026 | a0007c0026t0007 | a0007c0026t0007g0071 | 1 | 318 | 0.0031 | 412 | c.40+ others(427): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ZNF16_chr8_144925358_144955880 | 144946606 | T | TGGGCCCG others(405): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0277 | 1 | 404 | 0.0025 | 412 | c.-9- others(425): Show |
ZNF16 | ENSG00000170631.15 | transcript | ENST00000394909.7 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
ZNF365_chr10_62369369_62407450 | 62370841 | C | CATATATC others(405): Show |
upstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 350 | 0.0029 | 412 | c.-36 others(423): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3527 | chr10 | TogoVar | ||||||
ZNF573_chr19_37733302_37784586 | 37751663 | C | CATATATA others(405): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 350 | 0.0029 | 412 | c.296 others(431): Show |
ZNF573 | ENSG00000189144.15 | transcript | ENST00000536220.7 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
ZSCAN22_chr19_58321994_58347332 | 58326617 | T | TCTCACAC others(405): Show |
upstream_gene_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 400 | 0.0025 | 412 | c.-54 others(421): Show |
ZSCAN22 | ENSG00000182318.6 | transcript | ENST00000329665.5 | protein_coding | 376 | chr19 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54561917 | C | CCCCCCCC others(406): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0071 | 1 | 388 | 0.0026 | 413 | c.33+ others(430): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ADAMTS14_chr10_70667506_70767441 | 70688844 | G | GGAGGGAG others(406): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0021 | 1 | 354 | 0.0028 | 413 | c.523 others(432): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(406): Show |
downstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0174 | 1 | 352 | 0.0028 | 413 | c.*51 others(424): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | ||||||
ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(406): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0030 | 1 | 352 | 0.0028 | 413 | c.*51 others(424): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1558606 | T | TGCATGCT others(406): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0024 | 1 | 106 | 0.0094 | 413 | c.100 others(434): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1558668 | A | ATGCCCCA others(406): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0051 | 1 | 106 | 0.0094 | 413 | c.100 others(434): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1558668 | A | ATGCCCCA others(406): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0017 | 1 | 106 | 0.0094 | 413 | c.100 others(434): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1558668 | A | ATGCCCCA others(406): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0004 | a0002c0004t0047 | a0002c0004t0047g0063 | 1 | 106 | 0.0094 | 413 | c.100 others(434): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1558668 | A | ATGCCCCA others(406): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02080.hp1 HG02083.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0006a0002c0002t0008others(2): Show | a0001c0001t0001g0078a0002c0002t0006g0019a0002c0002t0008g0058others(2): Show | 5 | 106 | 0.0472 | 413 | c.100 others(434): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 69100947 | A | AAGGAAGG others(406): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03098.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0042a0001c0002t0004g0051 | 2 | 120 | 0.0167 | 413 | c.248 others(434): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 17/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRG2_chrX_18984307_19127468 | 19074544 | T | TTTCTTCT others(406): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 188 | 0.0053 | 413 | c.-1- others(428): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 2/28 | chrX | TogoVar | ||||||
ADGRG2_chrX_18984307_19127468 | 19074544 | T | TTTCTTCT others(406): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 188 | 0.0053 | 413 | c.-1- others(428): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 2/28 | chrX | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144531682 | A | AGGCTAGA others(406): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0127 | 1 | 246 | 0.0041 | 413 | c.298 others(430): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758516 | T | TCACCTGC others(406): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0002 | a0002c0068 | a0002c0068t0001 | a0002c0068t0001g0091 | 1 | 300 | 0.0033 | 413 | c.655 others(432): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70723689 | C | CGTAGCTC others(406): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 76 | 0.0132 | 413 | c.742 others(432): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70723689 | C | CGTAGCTC others(406): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01243.hp1 others(9): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0033a0001c0001t0001g0071a0001c0001t0003g0068others(9): Show | 12 | 76 | 0.1579 | 413 | c.742 others(432): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(406): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0033 | 1 | 391 | 0.0026 | 413 | c.*36 others(424): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(406): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01070.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0002t0001g0004 | 6 | 391 | 0.0154 | 413 | c.*36 others(424): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(406): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 2 | 391 | 0.0051 | 413 | c.*36 others(424): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | ||||||
BAG3_chr10_119646380_119682819 | 119675887 | T | TCCTTCCT others(406): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01167.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0031 | 2 | 420 | 0.0048 | 413 | c.910 others(428): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BFSP2_chr3_133395056_133480208 | 133425964 | A | AGGGGAGG others(406): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 276 | 0.0036 | 413 | c.490 others(432): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C1QTNF12_chr1_1237453_1251722 | 1245128 | T | TCTGCCCT others(406): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0083 | 1 | 328 | 0.0031 | 413 | c.178 others(428): Show |
C1QTNF12 | ENSG00000184163.3 | transcript | ENST00000330388.2 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
C8orf82_chr8_144520733_144534111 | 144531682 | A | AGGCTAGA others(406): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 398 | 0.0025 | 413 | c.-27 others(424): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2572 | chr8 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544729 | A | ACGTCGCC others(406): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0022 | a0001c0022t0027 | a0001c0022t0027g0349 | 1 | 410 | 0.0024 | 413 | c.-22 others(430): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CARD11_chr7_2901142_3048867 | 2909378 | T | TGCCCCTC others(406): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0131 | 1 | 322 | 0.0031 | 413 | c.326 others(430): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 24/24 | chr7 | TogoVar | ||||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(406): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 256 | 0.0039 | 413 | c.-45 others(434): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CELSR1_chr22_46356174_46542620 | 46366247 | G | GGGGCAGG others(406): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0016 | a0002c0016t0003 | a0002c0016t0003g0025 | 1 | 104 | 0.0096 | 413 | c.830 others(430): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132888450 | T | TCACCCCT others(406): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0066 | a0066c0077 | a0066c0077t0001 | a0066c0077t0001g0127 | 1 | 246 | 0.0041 | 413 | c.330 others(432): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
CHTF18_chr16_783620_803074 | 795580 | G | GCCCTTCT others(406): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0247 | 1 | 428 | 0.0023 | 413 | c.217 others(430): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |