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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GOLGA3_chr12_132763914_132833869 | 132787597 | TGGGACCC others(59): Show |
T | intron_variant | MODIFIER | HG01993.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0075 | a0001c0001t0017g0015a0001c0001t0075g0128 | 2 | 308 | 0.0065 | -66 | c.281 others(83): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 13/23 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132787605 | TTCCCCGG others(59): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 308 | 0.0033 | -66 | c.281 others(83): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 13/23 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132787728 | CCGGGACC others(59): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01192.hp2 others(3): Show |
a0002a0006 | a0002c0002a0006c0010 | a0002c0002t0002a0006c0010t0006 | a0002c0002t0002g0168a0002c0002t0002g0173a0002c0002t0002g0174others(3): Show | 6 | 308 | 0.0195 | -66 | c.281 others(84): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 13/23 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132787794 | ACGGGACC others(59): Show |
A | intron_variant | MODIFIER | HG02027.hp1 NA18522.hp1 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0071 | a0001c0001t0001g0051a0001c0001t0001g0084a0001c0001t0071g0050 | 3 | 308 | 0.0097 | -66 | c.281 others(85): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 13/23 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132817543 | CCACCCTC others(59): Show |
C | intron_variant | MODIFIER | HG01993.hp2 HG02080.hp2 HG02717.hp1 |
a0001a0014 | a0001c0001a0001c0003a0014c0020 | a0001c0001t0075a0001c0003t0011a0014c0020t0019 | a0001c0001t0075g0128a0001c0003t0011g0161a0014c0020t0019g0003 | 3 | 308 | 0.0097 | -66 | c.134 others(81): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132817846 | TCCACTCC others(59): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp2 others(99): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0026a0001c0001t0001g0042a0001c0001t0001g0043others(99): Show | 102 | 308 | 0.3312 | -66 | c.134 others(83): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132817884 | ACCTCCAC others(59): Show |
A | intron_variant | MODIFIER | NA18939.hp2 | a0023 | a0023c0040 | a0023c0040t0002 | a0023c0040t0002g0234 | 1 | 308 | 0.0033 | -66 | c.134 others(83): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132817904 | ACCCCCCC others(59): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01496.hp1 HG01978.hp1 others(28): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0024a0001c0026others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(10): Show | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(28): Show | 31 | 308 | 0.1007 | -66 | c.134 others(83): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
GOLM2_chr15_44283719_44420758 | 44288419 | CGAGAGAG others(59): Show |
C | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 150 | 0.0067 | -66 | c.-61 others(75): Show |
GOLM2 | ENSG00000166734.20 | transcript | ENST00000299957.11 | protein_coding | 299 | chr15 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143214366 | AGAGCAGA others(59): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0016 | 1 | 106 | 0.0094 | -66 | c.181 others(81): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
GPSM2_chr1_108871985_108939545 | 108873382 | AGATATAT others(59): Show |
A | upstream_gene_variant | MODIFIER | HG01175.hp1 HG01884.hp1 HG02698.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0011a0002c0002t0043 | a0002c0002t0011g0045a0002c0002t0011g0046a0002c0002t0011g0048others(1): Show | 4 | 260 | 0.0154 | -66 | c.-40 others(77): Show |
GPSM2 | ENSG00000121957.15 | transcript | ENST00000264126.9 | protein_coding | 3602 | chr1 | TogoVar | ||||||
GRIN2A_chr16_9748408_10187428 | 9848670 | ATGTTTTA others(59): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0015a0001c0003t0022others(1): Show | a0001c0003t0004g0036a0001c0003t0004g0037a0001c0003t0015g0069others(3): Show | 6 | 168 | 0.0357 | -66 | c.132 others(85): Show |
GRIN2A | ENSG00000183454.18 | transcript | ENST00000330684.4 | protein_coding | 5/12 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27888482 | CCTTTCTT others(59): Show |
C | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0101 | 1 | 240 | 0.0042 | -66 | c.398 others(83): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
GTPBP4_chr10_983434_1024932 | 1015381 | TCTGAGCC others(59): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0302 | 1 | 370 | 0.0027 | -66 | c.160 others(83): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GUCY2C_chr12_14607632_14701599 | 14696937 | GTATATAT others(59): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0001 | a0001c0003t0001g0003a0001c0003t0001g0121a0001c0003t0001g0122others(3): Show | 8 | 236 | 0.0339 | -66 | c.-55 others(75): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 339 | chr12 | TogoVar | ||||||
GZMA_chr5_55097646_55115252 | 55106235 | AATAAAAT others(59): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 390 | 0.0026 | -66 | c.215 others(81): Show |
GZMA | ENSG00000145649.8 | transcript | ENST00000274306.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
H4C11_chr6_27819092_27829480 | 27827451 | ACGGGGCG others(59): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 396 | 0.0101 | -66 | c.*30 others(77): Show |
H4C11 | ENSG00000197238.5 | transcript | ENST00000355057.3 | protein_coding | 2972 | chr6 | TogoVar | ||||||
H4C12_chr6_27826174_27836560 | 27827451 | ACGGGGCG others(59): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02486.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0000 | 4 | 419 | 0.0096 | -66 | c.*36 others(77): Show |
H4C12 | ENSG00000273542.2 | transcript | ENST00000611927.2 | protein_coding | 3722 | chr6 | TogoVar | ||||||
HAVCR1_chr5_157024413_157064116 | 157044400 | GGAAGGAA others(59): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0006 | a0006c0006 | a0006c0006t0005 | a0006c0006t0005g0212 | 1 | 352 | 0.0028 | -66 | c.782 others(83): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 5/8 | chr5 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602072 | CCCTCCTG others(59): Show |
C | intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0170 | 1 | 408 | 0.0025 | -66 | c.633 others(83): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HCN2_chr19_584881_622159 | 602167 | TCTCCTGC others(59): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0020 | a0001c0020t0004 | a0001c0020t0004g0397 | 1 | 408 | 0.0025 | -66 | c.633 others(83): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HERPUD2_chr7_35627659_35700135 | 35682260 | TGTATATA others(59): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG01071.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0003g0121a0001c0001t0003g0142a0001c0001t0003g0143others(18): Show | 21 | 392 | 0.0536 | -66 | c.148 others(83): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | ||||||
HGSNAT_chr8_43135464_43207855 | 43181082 | GGAGGGAG others(59): Show |
G | intron_variant | MODIFIER | HG03139.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0191 | 1 | 234 | 0.0043 | -66 | c.101 others(83): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
HIVEP1_chr6_12007312_12169999 | 12167929 | GTATATTA others(59): Show |
G | downstream_gene_variant | MODIFIER | NA18968.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0044 | 1 | 344 | 0.0029 | -66 | c.*34 others(77): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 2931 | chr6 | TogoVar | ||||||
HLA-F_chr6_29718434_29732296 | 29722774 | GGAAGAGG others(59): Show |
G | upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001 | 1 | 443 | 0.0023 | -66 | c.-68 others(75): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 659 | chr6 | TogoVar | ||||||
HRC_chr19_49146198_49160396 | 49157015 | CTCTCTCT others(59): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp1 | a0028 | a0028c0050 | a0028c0050t0001 | a0028c0050t0001g0072 | 1 | 406 | 0.0025 | -66 | c.-18 others(77): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1620 | chr19 | TogoVar | ||||||
HS3ST2_chr16_22809162_22921338 | 22830112 | GACTCGCT others(59): Show |
G | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 | 1 | 350 | 0.0029 | -66 | c.485 others(85): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HSPA1L_chr6_31804619_31820283 | 31818101 | ATCCTCCA others(59): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 429 | 0.0023 | -66 | c.-32 others(77): Show |
HSPA1L | ENSG00000204390.10 | transcript | ENST00000375654.5 | protein_coding | 2819 | chr6 | TogoVar | ||||||
IDI2_chr10_1013910_1030859 | 1015381 | TCTGAGCC others(59): Show |
T | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 434 | 0.0023 | -66 | c.*40 others(77): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3528 | chr10 | TogoVar | ||||||
IFT140_chr16_1505427_1617072 | 1507811 | GGTGTGTG others(59): Show |
G | downstream_gene_variant | MODIFIER | NA18522.hp2 NA19010.hp2 NA19054.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0072a0001c0002t0001g0080a0001c0002t0001g0121 | 3 | 334 | 0.0090 | -66 | c.*30 others(77): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 2615 | chr16 | TogoVar | ||||||
IL1RAPL2_chrX_104561199_105772829 | 104761881 | CCTTCTCC others(59): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0122 | 1 | 141 | 0.0071 | -66 | c.82+ others(85): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IMPA1_chr8_81651914_81691325 | 81685065 | TTTAGATA others(59): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0245 | 1 | 380 | 0.0026 | -66 | c.-25 others(83): Show |
IMPA1 | ENSG00000133731.10 | transcript | ENST00000256108.10 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ING5_chr2_241697039_241734478 | 241731559 | CCTCGCTG others(59): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02258.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0001t0020a0001c0002t0015 | a0001c0001t0015g0220a0001c0001t0015g0223a0001c0001t0020g0045others(3): Show | 7 | 394 | 0.0178 | -66 | c.*65 others(77): Show |
ING5 | ENSG00000168395.16 | transcript | ENST00000313552.11 | protein_coding | 2082 | chr2 | TogoVar | ||||||
IPO11_chr5_62407763_62633582 | 62598426 | TTCTTTCT others(59): Show |
T | intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 330 | 0.0030 | -66 | c.267 others(85): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 28/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IQCG_chr3_197884077_197964991 | 197904023 | CATATATA others(59): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02970.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0124a0001c0003t0003g0127a0001c0003t0003g0129 | 3 | 280 | 0.0107 | -66 | c.963 others(83): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 9/11 | chr3 | TogoVar | ||||||
IQCG_chr3_197884077_197964991 | 197907716 | GTTTCCAA others(59): Show |
G | intron_variant | MODIFIER | HG03017.hp2 HG03831.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0045a0001c0003t0001g0046 | 2 | 280 | 0.0071 | -66 | c.963 others(83): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 9/11 | chr3 | TogoVar | ||||||
ISOC2_chr19_55447985_55466642 | 55450426 | AGGGGGAC others(59): Show |
A | downstream_gene_variant | MODIFIER | NA18948.hp2 NA18976.hp1 NA18983.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0015a0001c0001t0001g0150a0001c0001t0011g0147 | 4 | 380 | 0.0105 | -66 | c.*28 others(77): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 2558 | chr19 | TogoVar | ||||||
ISOC2_chr19_55447985_55466642 | 55450766 | GAGACAGG others(59): Show |
G | downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0157 | 1 | 380 | 0.0026 | -66 | c.*24 others(77): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 2218 | chr19 | TogoVar | ||||||
ITGA11_chr15_68291532_68437163 | 68397510 | ATATATTT others(59): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(109): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(46): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(100): Show | a0001c0001t0003g0122a0001c0001t0003g0161a0001c0001t0004g0073others(109): Show | 112 | 242 | 0.4628 | -66 | c.164 others(83): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7593439 | CAGACTGC others(59): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00735.hp2 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0002c0003others(5): Show | a0001c0001t0001a0001c0006t0001a0001c0006t0017others(7): Show | a0001c0001t0001g0029a0001c0001t0001g0033a0001c0001t0001g0092others(13): Show | 16 | 342 | 0.0468 | -66 | c.940 others(83): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 7/13 | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7593673 | CCTGCAGC others(59): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01069.hp1 others(10): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0006a0002c0003others(4): Show | a0001c0001t0001a0001c0006t0001a0001c0006t0017others(5): Show | a0001c0001t0001g0029a0001c0001t0001g0033a0001c0001t0001g0092others(10): Show | 13 | 342 | 0.0380 | -66 | c.940 others(83): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 7/13 | chr10 | TogoVar | ||||||
ITSN2_chr2_24197864_24365536 | 24251347 | ATGTGTGT others(59): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02922.hp2 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0006 | a0001c0001t0001a0002c0003t0001a0005c0006t0001 | a0001c0001t0001g0206a0002c0003t0001g0196a0005c0006t0001g0203others(1): Show | 4 | 224 | 0.0179 | -66 | c.312 others(83): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 25/39 | chr2 | TogoVar | ||||||
IYD_chr6_150364012_150410969 | 150372705 | TTGGGGGT others(59): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp1 others(158): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0161a0001c0001t0001g0206a0001c0001t0001g0249others(134): Show | 161 | 414 | 0.3889 | -66 | c.178 others(83): Show |
IYD | ENSG00000009765.15 | transcript | ENST00000344419.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132150755 | CGTCCTCC others(59): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0016 | a0002c0016t0006 | a0002c0016t0006g0052 | 1 | 158 | 0.0063 | -66 | c.200 others(83): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KBTBD11_chr8_1968677_2011936 | 1990536 | ATGCTGCG others(59): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01891.hp1 HG01891.hp2 others(15): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0011 | a0001c0001t0001a0001c0001t0004a0001c0001t0018others(6): Show | a0001c0001t0001g0016a0001c0001t0004g0017a0001c0001t0004g0290others(14): Show | 18 | 389 | 0.0463 | -66 | c.-90 others(85): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KBTBD11_chr8_1968677_2011936 | 1990576 | GGGGCCTT others(59): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163a0001c0001t0001g0239a0001c0001t0001g0241 | 3 | 389 | 0.0077 | -66 | c.-90 others(85): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KBTBD11_chr8_1968677_2011936 | 1990609 | GGGGCCTT others(59): Show |
G | intron_variant | MODIFIER | HG00639.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0057 | a0001c0001t0038g0159a0001c0001t0057g0036 | 2 | 389 | 0.0051 | -66 | c.-90 others(85): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KBTBD11_chr8_1968677_2011936 | 1990866 | GTGCTGCG others(59): Show |
G | intron_variant | MODIFIER | HG00642.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0038 | a0001c0001t0015g0107a0001c0001t0038g0159 | 2 | 389 | 0.0051 | -66 | c.-90 others(85): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KBTBD11_chr8_1968677_2011936 | 1990972 | GGGGCCTT others(59): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02647.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0049a0001c0001t0054others(2): Show | a0001c0001t0013g0150a0001c0001t0049g0302a0001c0001t0054g0368others(2): Show | 5 | 389 | 0.0129 | -66 | c.-90 others(85): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79826418 | CGAGCAGC others(59): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG00735.hp2 others(51): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0029a0001c0001t0001g0075a0001c0001t0001g0076others(51): Show | 54 | 312 | 0.1731 | -66 | c.-11 others(87): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |