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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HS6ST3_chr13_96085107_96844562 | 96381410 | G | GTATCTAT others(33): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 24 | 0.0417 | 40 | c.707 others(61): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HSD17B14_chr19_48808018_48841491 | 48826528 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG03239.hp2 HG03669.hp2 NA19056.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0157 a0001c0001t0001g0191 a0002c0002t0001g0032 |
3 | 64 | 0.0469 | 40 | c.369 others(57): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
HSD17B3_chr9_96230306_96307176 | 96272405 | C | CTCTCTCT others(33): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0287 | 1 | 180 | 0.0056 | 40 | c.202 others(59): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
HSD17B3_chr9_96230306_96307176 | 96272405 | C | CTCTCTCT others(33): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02280.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0161 a0002c0002t0002g0300 |
2 | 181 | 0.0110 | 40 | c.202 others(59): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
HSD17B3_chr9_96230306_96307176 | 96272405 | C | CTCTCTCT others(33): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0307 | 1 | 180 | 0.0056 | 40 | c.202 others(59): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
HSD17B3_chr9_96230306_96307176 | 96272405 | C | CTCTCTCT others(33): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 180 | 0.0056 | 40 | c.202 others(59): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
HSPBAP1_chr3_122734999_122798831 | 122743010 | A | ATCGGAGT others(33): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0273 | 1 | 348 | 0.0029 | 40 | c.826 others(57): Show |
HSPBAP1 | ENSG00000169087.11 | transcript | ENST00000306103.3 | protein_coding | 6/7 | chr3 | TogoVar | |||||||
HTR1D_chr1_23186895_23222502 | 23218508 | T | TTTGGTTG others(33): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0034 a0001c0001t0004g0035 |
2 | 158 | 0.0127 | 40 | c.-20 others(51): Show |
HTR1D | ENSG00000179546.5 | transcript | ENST00000374619.2 | protein_coding | 1007 | chr1 | TogoVar | |||||||
HTR3B_chr11_113899796_113954079 | 113926468 | T | TTTTCCTT others(33): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01928.hp1 HG02818.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0005a0001c0001t0031a0001c0001t0065others(1): Show | a0001c0001t0005g0044 a0001c0001t0005g0047 a0001c0001t0031g0012 others(2): Show |
5 | 93 | 0.0538 | 40 | c.214 others(57): Show |
HTR3B | ENSG00000149305.8 | transcript | ENST00000260191.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294616 | C | CCACCCAC others(33): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0113 | 1 | 278 | 0.0036 | 40 | c.105 others(57): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294619 | T | TCCACCCA others(33): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 384 | 0.0026 | 40 | c.105 others(57): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294620 | C | CCACCCAC others(33): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02896.hp1 HG02896.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0159 others(2): Show |
5 | 330 | 0.0152 | 40 | c.105 others(57): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTT_chr4_3069681_3248957 | 3074612 | T | TGGCCCCG others(33): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0005 | a0005c0008 | a0005c0008t0003 | a0005c0008t0003g0026 | 1 | 244 | 0.0041 | 40 | c.-21 others(49): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 68 | chr4 | TogoVar | |||||||
HTT_chr4_3069681_3248957 | 3169003 | A | ATTCTTTC others(33): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0012 | a0012c0006 | a0012c0006t0003 | a0012c0006t0003g0022 | 1 | 248 | 0.0040 | 40 | c.386 others(59): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 29/66 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HUS1_chr7_47958288_47984615 | 47959615 | C | CCTCTGCC others(33): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0029 | 2 | 408 | 0.0049 | 40 | c.*57 others(51): Show |
HUS1 | ENSG00000136273.13 | transcript | ENST00000258774.10 | protein_coding | 3672 | chr7 | TogoVar | |||||||
HUS1_chr7_47958288_47984615 | 47959619 | C | CGCCCGGC others(33): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(154): Show |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0002a0001c0002t0008a0001c0002t0010others(4): Show | a0001c0002t0002g0001 a0001c0002t0002g0009 a0001c0002t0002g0013 others(43): Show |
157 | 406 | 0.3867 | 40 | c.*57 others(51): Show |
HUS1 | ENSG00000136273.13 | transcript | ENST00000258774.10 | protein_coding | 3668 | chr7 | TogoVar | |||||||
HUS1_chr7_47958288_47984615 | 47959623 | C | CGGCAGCC others(33): Show |
downstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0091 | 1 | 408 | 0.0025 | 40 | c.*57 others(51): Show |
HUS1 | ENSG00000136273.13 | transcript | ENST00000258774.10 | protein_coding | 3664 | chr7 | TogoVar | |||||||
HYDIN_chr16_70797084_71235722 | 70834972 | G | GTATATAT others(33): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0022 | a0003c0022t0005 | a0003c0022t0005g0046 | 1 | 172 | 0.0058 | 40 | c.134 others(59): Show |
HYDIN | ENSG00000157423.18 | transcript | ENST00000393567.7 | protein_coding | 78/85 | chr16 | TogoVar | |||||||
HYDIN_chr16_70797084_71235722 | 70902794 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0003 | a0003c0008 | a0003c0008t0008 | a0003c0008t0008g0124 | 1 | 138 | 0.0072 | 40 | c.884 others(57): Show |
HYDIN | ENSG00000157423.18 | transcript | ENST00000393567.7 | protein_coding | 52/85 | chr16 | TogoVar | |||||||
IARS1_chr9_92205207_92298697 | 92227552 | A | AGGCGGAG others(33): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0319 | 1 | 320 | 0.0031 | 40 | c.340 others(59): Show |
IARS1 | ENSG00000196305.19 | transcript | ENST00000443024.7 | protein_coding | 31/33 | chr9 | TogoVar | |||||||
IBTK_chr6_82164987_82252744 | 82173674 | A | AATAAATA others(33): Show |
intron_variant | MODIFIER | HG03516.hp1 HG03710.hp2 NA18965.hp1 others(2): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0002a0002c0002t0002 | a0001c0004t0002g0065 a0002c0002t0002g0069 a0002c0002t0002g0086 others(2): Show |
5 | 9 | 0.5556 | 40 | c.372 others(57): Show |
IBTK | ENSG00000005700.15 | transcript | ENST00000306270.12 | protein_coding | 26/28 | chr6 | TogoVar | |||||||
IBTK_chr6_82164987_82252744 | 82173674 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02630.hp1 HG02647.hp2 others(1): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0002a0004c0005t0002 | a0002c0002t0002g0044 a0002c0002t0002g0052 a0004c0005t0002g0160 others(1): Show |
4 | 8 | 0.5000 | 40 | c.372 others(57): Show |
IBTK | ENSG00000005700.15 | transcript | ENST00000306270.12 | protein_coding | 26/28 | chr6 | TogoVar | |||||||
IBTK_chr6_82164987_82252744 | 82173684 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0068 | 1 | 256 | 0.0039 | 40 | c.372 others(57): Show |
IBTK | ENSG00000005700.15 | transcript | ENST00000306270.12 | protein_coding | 26/28 | chr6 | TogoVar | |||||||
ICA1L_chr2_202768176_202876766 | 202847694 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0224 | 1 | 328 | 0.0030 | 40 | c.-7- others(57): Show |
ICA1L | ENSG00000163596.17 | transcript | ENST00000358299.7 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ICA1L_chr2_202768176_202876766 | 202847695 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00738.hp1 HG01516.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0022others(2): Show | a0001c0001t0006g0272 a0001c0001t0006g0279 a0001c0001t0006g0280 others(5): Show |
9 | 193 | 0.0466 | 40 | c.-7- others(57): Show |
ICA1L | ENSG00000163596.17 | transcript | ENST00000358299.7 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ICA1L_chr2_202768176_202876766 | 202847703 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0120 | 1 | 186 | 0.0054 | 40 | c.-7- others(57): Show |
ICA1L | ENSG00000163596.17 | transcript | ENST00000358299.7 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8145764 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0043 |
2 | 35 | 0.0571 | 40 | c.805 others(57): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
IDH2_chr15_90078045_90107468 | 90098539 | T | TATGTATG others(33): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0036 | 1 | 438 | 0.0023 | 40 | c.115 others(57): Show |
IDH2 | ENSG00000182054.10 | transcript | ENST00000330062.8 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
IDH2_chr15_90078045_90107468 | 90104915 | T | TTGAGCAA others(33): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 | 1 | 438 | 0.0023 | 40 | c.-25 others(51): Show |
IDH2 | ENSG00000182054.10 | transcript | ENST00000330062.8 | protein_coding | 2448 | chr15 | TogoVar | |||||||
IDH2_chr15_90078045_90107468 | 90106074 | C | CTTTTATT others(33): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0086 | 1 | 156 | 0.0064 | 40 | c.-36 others(51): Show |
IDH2 | ENSG00000182054.10 | transcript | ENST00000330062.8 | protein_coding | 3607 | chr15 | TogoVar | |||||||
IDI2_chr10_1013910_1030859 | 1016879 | G | GTAACTGT others(33): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0168 | 1 | 432 | 0.0023 | 40 | c.*25 others(51): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 2030 | chr10 | TogoVar | |||||||
IDI2_chr10_1013910_1030859 | 1020227 | C | CTTTTTTT others(33): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0058 | 1 | 321 | 0.0031 | 40 | c.367 others(55): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925956 | T | TTGGTTGG others(33): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0004g0049 a0001c0001t0004g0210 a0001c0001t0006g0048 others(3): Show |
6 | 354 | 0.0169 | 40 | c.666 others(57): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925960 | T | TTGGATGG others(33): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02572.hp2 HG02818.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(2): Show | a0001c0001t0002g0218 a0001c0001t0004g0068 a0001c0001t0011g0038 others(5): Show |
8 | 251 | 0.0319 | 40 | c.666 others(57): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFITM10_chr11_1727406_1755595 | 1754525 | G | GGGGATGT others(33): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 214 | 0.0047 | 40 | c.-40 others(51): Show |
IFITM10 | ENSG00000244242.2 | transcript | ENST00000340134.5 | protein_coding | 3931 | chr11 | TogoVar | |||||||
IFNA13_chr9_21362372_21373057 | 21366392 | T | TGTATATA others(33): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 464 | 0.0043 | 40 | c.*10 others(51): Show |
IFNA13 | ENSG00000233816.4 | transcript | ENST00000610660.2 | protein_coding | 979 | chr9 | TogoVar | |||||||
IFNA6_chr9_21345318_21355887 | 21353389 | T | TTTTTTTT others(33): Show |
upstream_gene_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 420 | 0.0024 | 40 | c.-25 others(51): Show |
IFNA6 | ENSG00000120235.5 | transcript | ENST00000380210.2 | protein_coding | 2503 | chr9 | TogoVar | |||||||
IFNL2_chr19_39263396_39275188 | 39267335 | C | CTCTCTCT others(33): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 NA19030.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 2 | 173 | 0.0116 | 40 | c.-12 others(51): Show |
IFNL2 | ENSG00000183709.8 | transcript | ENST00000331982.6 | protein_coding | 1060 | chr19 | TogoVar | |||||||
IFNL2_chr19_39263396_39275188 | 39267983 | A | AATATATA others(33): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 |
2 | 297 | 0.0067 | 40 | c.-58 others(49): Show |
IFNL2 | ENSG00000183709.8 | transcript | ENST00000331982.6 | protein_coding | 412 | chr19 | TogoVar | |||||||
IFT80_chr3_160251986_160404225 | 160381239 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02976.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0007 a0002c0002t0001g0074 |
2 | 72 | 0.0278 | 40 | c.259 others(55): Show |
IFT80 | ENSG00000068885.15 | transcript | ENST00000326448.12 | protein_coding | 3/19 | chr3 | TogoVar | |||||||
IFTAP_chr11_36589502_36664272 | 36661259 | C | CATACATA others(33): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01361.hp2 HG02572.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0041 others(4): Show |
11 | 49 | 0.2245 | 40 | c.*20 others(51): Show |
IFTAP | ENSG00000166352.18 | transcript | ENST00000334307.10 | protein_coding | 1988 | chr11 | TogoVar | |||||||
IFTAP_chr11_36589502_36664272 | 36661259 | C | CATATATA others(33): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(27): Show |
32 | 70 | 0.4571 | 40 | c.*20 others(51): Show |
IFTAP | ENSG00000166352.18 | transcript | ENST00000334307.10 | protein_coding | 1988 | chr11 | TogoVar | |||||||
IFTAP_chr11_36589502_36664272 | 36661270 | A | ATATATAT others(33): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 a0001c0001t0002g0214 |
2 | 352 | 0.0057 | 40 | c.*20 others(51): Show |
IFTAP | ENSG00000166352.18 | transcript | ENST00000334307.10 | protein_coding | 1999 | chr11 | TogoVar | |||||||
IFTAP_chr11_36589502_36664272 | 36661274 | A | ATATATAT others(33): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 356 | 0.0028 | 40 | c.*20 others(51): Show |
IFTAP | ENSG00000166352.18 | transcript | ENST00000334307.10 | protein_coding | 2003 | chr11 | TogoVar | |||||||
IGF1_chr12_102390874_102485563 | 102415543 | T | TTTCCTTC others(33): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01123.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0013 a0001c0001t0001g0061 a0001c0001t0001g0088 others(29): Show |
32 | 78 | 0.4103 | 40 | c.402 others(57): Show |
IGF1 | ENSG00000017427.17 | transcript | ENST00000337514.11 | protein_coding | 3/3 | chr12 | TogoVar | |||||||
IGF1_chr12_102390874_102485563 | 102415543 | T | TTTCCTTC others(33): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02818.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0040a0001c0001t0083 | a0001c0001t0021g0083 a0001c0001t0040g0019 a0001c0001t0083g0021 |
3 | 49 | 0.0612 | 40 | c.402 others(57): Show |
IGF1 | ENSG00000017427.17 | transcript | ENST00000337514.11 | protein_coding | 3/3 | chr12 | TogoVar | |||||||
IGF1_chr12_102390874_102485563 | 102428236 | G | GTATATAT others(33): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01256.hp1 HG01258.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(1): Show | a0001c0001t0001g0091 a0001c0001t0001g0126 a0001c0001t0001g0182 others(6): Show |
10 | 166 | 0.0602 | 40 | c.221 others(57): Show |
IGF1 | ENSG00000017427.17 | transcript | ENST00000337514.11 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
IGF2BP2_chr3_185638130_185830042 | 185677068 | T | TATGGAGA others(33): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 91 | 0.0110 | 40 | c.813 others(57): Show |
IGF2BP2 | ENSG00000073792.16 | transcript | ENST00000382199.7 | protein_coding | 7/15 | chr3 | TogoVar | |||||||
IGF2BP2_chr3_185638130_185830042 | 185677068 | T | TGGAGATA others(33): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0212 | 1 | 91 | 0.0110 | 40 | c.813 others(57): Show |
IGF2BP2 | ENSG00000073792.16 | transcript | ENST00000382199.7 | protein_coding | 7/15 | chr3 | TogoVar | |||||||
IGF2R_chr6_159964082_160116504 | 159980200 | A | AAAGAAAG others(33): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02486.hp1 others(2): Show |
a0014a0015a0018 | a0014c0026a0015c0022a0018c0023 | a0014c0026t0024a0015c0022t0030a0015c0022t0032others(1): Show | a0014c0026t0024g0149 a0014c0026t0024g0297 a0015c0022t0030g0275 others(2): Show |
5 | 293 | 0.0171 | 40 | c.149 others(59): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |