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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HPGDS_chr4_94293535_94347836 | 94340309 | C | CTTTCTTT others(26): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 312 | 0.0032 | 33 | c.-10 others(50): Show |
HPGDS | ENSG00000163106.11 | transcript | ENST00000295256.10 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
HPGD_chr4_174485175_174527488 | 174524651 | A | ACTGCTCA others(26): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210 | 1 | 414 | 0.0024 | 33 | c.-22 others(44): Show |
HPGD | ENSG00000164120.14 | transcript | ENST00000296522.11 | protein_coding | 2164 | chr4 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 99132241 | G | GGAGAAAG others(26): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0049 | 1 | 142 | 0.0070 | 33 | c.610 others(52): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | ||||||
HROB_chr17_44136930_44167476 | 44139366 | A | AATCAGCT others(26): Show |
upstream_gene_variant | MODIFIER | NA19077.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 322 | 0.0031 | 33 | c.-27 others(44): Show |
HROB | ENSG00000125319.15 | transcript | ENST00000585683.6 | protein_coding | 2563 | chr17 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 86990837 | T | TATATATA others(26): Show |
intron_variant | MODIFIER | HG02717.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0105a0001c0001t0011g0108 | 2 | 154 | 0.0130 | 33 | c.124 others(52): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
HS3ST1_chr4_11388150_11433894 | 11429643 | C | CTTTTTTT others(26): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0242 | 1 | 440 | 0.0023 | 33 | c.-10 others(44): Show |
HS3ST1 | ENSG00000002587.10 | transcript | ENST00000002596.6 | protein_coding | 750 | chr4 | TogoVar | ||||||
HS3ST3B1_chr17_14296081_14354404 | 14329372 | A | AAGGAAGG others(26): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0065 | 1 | 432 | 0.0023 | 33 | c.555 others(52): Show |
HS3ST3B1 | ENSG00000125430.9 | transcript | ENST00000360954.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
HS3ST4_chr16_25686959_26142685 | 25903302 | G | GTGTGTGT others(26): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG00735.hp2 others(18): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0038a0001c0001t0001g0102a0001c0001t0001g0127others(18): Show | 21 | 164 | 0.1281 | 33 | c.734 others(54): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96304714 | T | TCTTTCTT others(26): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0028 | 1 | 116 | 0.0086 | 33 | c.707 others(54): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96831954 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0062 | 1 | 116 | 0.0086 | 33 | c.708 others(48): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HSPA4_chr5_133047013_133111449 | 133085489 | T | TAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02074.hp1 HG02132.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0014 | a0001c0001t0003g0086a0001c0001t0003g0088a0001c0001t0003g0089others(9): Show | 12 | 364 | 0.0330 | 33 | c.909 others(50): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114741524 | T | TAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02145.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0145a0001c0001t0001g0170others(1): Show | 4 | 176 | 0.0227 | 33 | c.349 others(50): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTT_chr4_3069681_3248957 | 3074935 | A | AGCAGCAG others(26): Show |
disruptive_inframe_insertion | MODERATE | HG02615.hp2 | a0090 | a0090c0126 | a0090c0126t0003 | a0090c0126t0003g0018 | 1 | 294 | 0.0034 | 33 | c.110 others(40): Show |
p.Gln others(44): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 1/67 | 256/13472 | 111/9429 | 37/3142 | chr4 | TogoVar | ||
HUWE1_chrX_53527096_53691719 | 53686656 | T | TCAGCCCT others(26): Show |
5_prime_UTR_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0184 | 1 | 214 | 0.0047 | 33 | c.-33 others(42): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 1/84 | 32550 | chrX | TogoVar | |||||
HYDIN_chr16_70797084_71235722 | 70931210 | G | GTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0062 | a0001c0062t0013 | a0001c0062t0013g0104 | 1 | 174 | 0.0058 | 33 | c.715 others(52): Show |
HYDIN | ENSG00000157423.18 | transcript | ENST00000393567.7 | protein_coding | 45/85 | chr16 | TogoVar | ||||||
ICOSLG_chr21_44217991_44245943 | 44219819 | G | GGAGGAGG others(26): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00642.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0014others(23): Show | 32 | 41 | 0.7805 | 33 | c.*92 others(44): Show |
ICOSLG | ENSG00000160223.18 | transcript | ENST00000407780.8 | protein_coding | 3171 | chr21 | TogoVar | ||||||
ID3_chr1_23552926_23564501 | 23560594 | T | TGGGTGGG others(26): Show |
upstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 434 | 0.0023 | 33 | c.-11 others(44): Show |
ID3 | ENSG00000117318.9 | transcript | ENST00000374561.6 | protein_coding | 1094 | chr1 | TogoVar | ||||||
IDE_chr10_92446684_92579093 | 92552857 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 314 | 0.0032 | 33 | c.99- others(50): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 1/24 | chr10 | TogoVar | ||||||
IDH3A_chr15_78144362_78176945 | 78158463 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0110 | 1 | 386 | 0.0026 | 33 | c.174 others(48): Show |
IDH3A | ENSG00000166411.14 | transcript | ENST00000299518.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IDH3A_chr15_78144362_78176945 | 78158464 | T | TATATATA others(26): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0093 | 1 | 386 | 0.0026 | 33 | c.174 others(48): Show |
IDH3A | ENSG00000166411.14 | transcript | ENST00000299518.7 | protein_coding | 3/10 | chr15 | TogoVar | ||||||
IDI2_chr10_1013910_1030859 | 1015360 | T | TGCGGGGC others(26): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0006 | 1 | 434 | 0.0023 | 33 | c.*41 others(44): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3549 | chr10 | TogoVar | ||||||
IDI2_chr10_1013910_1030859 | 1015381 | T | TCTGAGCC others(26): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG01167.hp1 HG01167.hp2 others(24): Show |
a0000a0001 | a0000c0004a0000c0005a0000c0010others(1): Show | a0000c0004t0001a0000c0004t0008a0000c0005t0001others(2): Show | a0000c0004t0001g0014a0000c0004t0001g0018a0000c0004t0001g0021others(12): Show | 27 | 434 | 0.0622 | 33 | c.*41 others(44): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3528 | chr10 | TogoVar | ||||||
IDI2_chr10_1013910_1030859 | 1015399 | C | CCTGGGGT others(26): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026a0001c0001t0002g0035a0001c0001t0002g0048others(2): Show | 8 | 434 | 0.0184 | 33 | c.*41 others(44): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3510 | chr10 | TogoVar | ||||||
IDI2_chr10_1013910_1030859 | 1015432 | C | CCTGGGGT others(26): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0002a0001c0001t0009a0001c0002t0002others(1): Show | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0016others(20): Show | 77 | 434 | 0.1774 | 33 | c.*40 others(44): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3477 | chr10 | TogoVar | ||||||
IDI2_chr10_1013910_1030859 | 1015513 | T | TCTGAGCC others(26): Show |
downstream_gene_variant | MODIFIER | HG03669.hp1 NA18978.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0064 | 2 | 434 | 0.0046 | 33 | c.*40 others(44): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3396 | chr10 | TogoVar | ||||||
IDI2_chr10_1013910_1030859 | 1015564 | G | GCTGGGGT others(26): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 NA18986.hp2 NA18995.hp1 |
a0000a0001 | a0000c0004a0000c0005a0001c0001 | a0000c0004t0001a0000c0005t0013a0001c0001t0001 | a0000c0004t0001g0025a0000c0005t0013g0107a0001c0001t0001g0029 | 3 | 434 | 0.0069 | 33 | c.*39 others(44): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3345 | chr10 | TogoVar | ||||||
IDI2_chr10_1013910_1030859 | 1015564 | G | GCTGGGGT others(26): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 434 | 0.0023 | 33 | c.*39 others(44): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3345 | chr10 | TogoVar | ||||||
IDI2_chr10_1013910_1030859 | 1015645 | G | GCTGAGCC others(26): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 434 | 0.0023 | 33 | c.*38 others(44): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3264 | chr10 | TogoVar | ||||||
IDI2_chr10_1013910_1030859 | 1015645 | G | GCTGAGCC others(26): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(210): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(81): Show | 213 | 434 | 0.4908 | 33 | c.*38 others(44): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3264 | chr10 | TogoVar | ||||||
IDO2_chr8_39929651_40021392 | 39995251 | C | CCTTCTCC others(26): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01346.hp1 HG03453.hp2 others(1): Show |
a0002a0009a0015 | a0002c0002a0009c0009a0015c0017 | a0002c0002t0008a0002c0002t0018a0009c0009t0005others(1): Show | a0002c0002t0008g0051a0002c0002t0018g0174a0009c0009t0005g0178others(1): Show | 4 | 360 | 0.0111 | 33 | c.667 others(50): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
IDO2_chr8_39929651_40021392 | 39995251 | C | CCTTCTCC others(26): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG01109.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0005others(1): Show | a0002c0002t0001g0108a0002c0002t0001g0112a0002c0002t0001g0115others(9): Show | 12 | 360 | 0.0333 | 33 | c.667 others(50): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
IDO2_chr8_39929651_40021392 | 39995274 | T | TTCTTCTT others(26): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02165.hp1 NA19011.hp1 |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0002c0002t0007a0005c0005t0002 | a0002c0002t0001g0092a0002c0002t0007g0192a0005c0005t0002g0062 | 3 | 360 | 0.0083 | 33 | c.667 others(50): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
IFFO2_chr1_18899280_18961676 | 18925820 | A | ATGGATGG others(26): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0369 | 1 | 376 | 0.0027 | 33 | c.666 others(50): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFI16_chr1_159004907_159060151 | 159028796 | T | TTTTGTCT others(26): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(121): Show |
a0002a0003a0004others(6): Show | a0002c0002a0002c0024a0003c0005others(12): Show | a0002c0002t0001a0002c0002t0002a0002c0024t0002others(15): Show | a0002c0002t0001g0008a0002c0002t0001g0034a0002c0002t0001g0183others(90): Show | 124 | 320 | 0.3875 | 33 | c.116 others(52): Show |
IFI16 | ENSG00000163565.20 | transcript | ENST00000295809.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
IFI27L2_chr14_94122781_94134604 | 94124920 | C | CTTTTTTT others(26): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG04228.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 3 | 433 | 0.0069 | 33 | c.*28 others(44): Show |
IFI27L2 | ENSG00000119632.4 | transcript | ENST00000238609.4 | protein_coding | 2860 | chr14 | TogoVar | ||||||
IFITM10_chr11_1727406_1755595 | 1754492 | A | AGGGATGT others(26): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 NA18962.hp2 NA18994.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0026others(2): Show | 5 | 406 | 0.0123 | 33 | c.-40 others(44): Show |
IFITM10 | ENSG00000244242.2 | transcript | ENST00000340134.5 | protein_coding | 3898 | chr11 | TogoVar | ||||||
IFITM10_chr11_1727406_1755595 | 1754525 | G | GGGGATGG others(26): Show |
upstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 406 | 0.0025 | 33 | c.-41 others(44): Show |
IFITM10 | ENSG00000244242.2 | transcript | ENST00000340134.5 | protein_coding | 3931 | chr11 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323368 | G | GAATAATA others(26): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0096 | 1 | 323 | 0.0031 | 33 | c.-16 others(44): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1601 | chr21 | TogoVar | ||||||
IFNGR1_chr6_137192485_137224385 | 137199537 | T | TTTATAAT others(26): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 390 | 0.0026 | 33 | c.862 others(48): Show |
IFNGR1 | ENSG00000027697.16 | transcript | ENST00000367739.9 | protein_coding | 6/6 | chr6 | TogoVar | ||||||
IFNL3_chr19_39238553_39250006 | 39241978 | T | TTATTTAA others(26): Show |
downstream_gene_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 390 | 0.0026 | 33 | c.*16 others(44): Show |
IFNL3 | ENSG00000197110.10 | transcript | ENST00000413851.3 | protein_coding | 1574 | chr19 | TogoVar | ||||||
IGF1_chr12_102390874_102485563 | 102413851 | C | CAAGCTAC others(26): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0035 | 1 | 360 | 0.0028 | 33 | c.402 others(50): Show |
IGF1 | ENSG00000017427.17 | transcript | ENST00000337514.11 | protein_coding | 3/3 | chr12 | TogoVar | ||||||
IGF1_chr12_102390874_102485563 | 102441906 | G | GCTGCTGC others(26): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01515.hp1 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0028a0001c0001t0092 | a0001c0001t0012g0100a0001c0001t0028g0099a0001c0001t0092g0156 | 3 | 360 | 0.0083 | 33 | c.221 others(52): Show |
IGF1 | ENSG00000017427.17 | transcript | ENST00000337514.11 | protein_coding | 2/3 | chr12 | TogoVar | ||||||
IGF1_chr12_102390874_102485563 | 102441906 | G | GCTGCTGC others(26): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01928.hp2 HG01943.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0022others(6): Show | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0122others(10): Show | 13 | 360 | 0.0361 | 33 | c.221 others(52): Show |
IGF1 | ENSG00000017427.17 | transcript | ENST00000337514.11 | protein_coding | 2/3 | chr12 | TogoVar | ||||||
IGF1_chr12_102390874_102485563 | 102441906 | G | GCTGCTGC others(26): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01346.hp1 HG02027.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(3): Show | a0001c0001t0001g0110a0001c0001t0001g0292a0001c0001t0002g0145others(4): Show | 7 | 360 | 0.0194 | 33 | c.221 others(52): Show |
IGF1 | ENSG00000017427.17 | transcript | ENST00000337514.11 | protein_coding | 2/3 | chr12 | TogoVar | ||||||
IGF1_chr12_102390874_102485563 | 102441906 | G | GCTTCTTC others(26): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01884.hp2 HG01978.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0018others(3): Show | a0001c0001t0004g0299a0001c0001t0004g0315a0001c0001t0004g0325others(7): Show | 10 | 360 | 0.0278 | 33 | c.221 others(52): Show |
IGF1 | ENSG00000017427.17 | transcript | ENST00000337514.11 | protein_coding | 2/3 | chr12 | TogoVar | ||||||
IGF2BP1_chr17_48992385_49061145 | 49059984 | C | CAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0273 | 1 | 318 | 0.0031 | 33 | c.*10 others(46): Show |
IGF2BP1 | ENSG00000159217.10 | transcript | ENST00000290341.8 | protein_coding | 3840 | chr17 | TogoVar | ||||||
IGF2BP2_chr3_185638130_185830042 | 185665290 | A | AAGGAGGA others(26): Show |
intron_variant | MODIFIER | HG03041.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0213a0001c0001t0002g0212 | 2 | 216 | 0.0093 | 33 | c.120 others(52): Show |
IGF2BP2 | ENSG00000073792.16 | transcript | ENST00000382199.7 | protein_coding | 10/15 | chr3 | TogoVar | ||||||
IGF2BP2_chr3_185638130_185830042 | 185665329 | G | GAGGAGGA others(26): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02970.hp1 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0085a0001c0001t0001g0097a0001c0001t0025g0065 | 3 | 216 | 0.0139 | 33 | c.120 others(52): Show |
IGF2BP2 | ENSG00000073792.16 | transcript | ENST00000382199.7 | protein_coding | 10/15 | chr3 | TogoVar | ||||||
IGF2BP2_chr3_185638130_185830042 | 185677068 | T | TATATATA others(26): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0060 | 1 | 216 | 0.0046 | 33 | c.813 others(50): Show |
IGF2BP2 | ENSG00000073792.16 | transcript | ENST00000382199.7 | protein_coding | 7/15 | chr3 | TogoVar | ||||||
IGSF21_chr1_18102798_18383483 | 18177388 | G | GATGGCTG others(26): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 248 | 0.0040 | 33 | c.71- others(50): Show |
IGSF21 | ENSG00000117154.12 | transcript | ENST00000251296.4 | protein_coding | 1/9 | chr1 | TogoVar |