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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IL2RB_chr22_37120843_37154916 | 37140682 | A | ATGATGGT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(279): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0006others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(47): Show | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0019others(229): Show | 282 | 454 | 0.6212 | 7 | c.283 others(24): Show |
IL2RB | ENSG00000100385.15 | transcript | ENST00000216223.10 | protein_coding | 4/9 | chr22 | TogoVar | ||||||
IL31RA_chr5_55846357_55927850 | 55886268 | C | CTTTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0021a0001c0003t0026a0001c0003t0028others(2): Show | a0001c0003t0021g0158a0001c0003t0026g0280a0001c0003t0026g0281others(4): Show | 7 | 322 | 0.0217 | 7 | c.606 others(24): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IL31RA_chr5_55846357_55927850 | 55891761 | A | ATTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG02109.hp1 HG03540.hp2 others(3): Show |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0089a0002c0002t0001a0002c0002t0005others(2): Show | a0001c0005t0089g0040a0002c0002t0001g0083a0002c0002t0001g0090others(3): Show | 6 | 322 | 0.0186 | 7 | c.772 others(24): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IL31RA_chr5_55846357_55927850 | 55896985 | T | TAAAAAAA | intron_variant | MODIFIER | HG00738.hp1 HG01256.hp1 HG01258.hp1 others(9): Show |
a0001a0002 | a0001c0003a0001c0005a0002c0002 | a0001c0003t0027a0001c0005t0011a0001c0005t0018others(3): Show | a0001c0003t0027g0157a0001c0005t0011g0002a0001c0005t0011g0035others(9): Show | 12 | 322 | 0.0373 | 7 | c.852 others(22): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IL33_chr9_6210807_6262983 | 6218911 | T | TGTTCTCC | intron_variant | MODIFIER | HG00323.hp2 HG02080.hp1 HG02148.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0169a0001c0002t0002g0260a0001c0002t0002g0261others(4): Show | 7 | 362 | 0.0193 | 7 | c.-12 others(24): Show |
IL33 | ENSG00000137033.12 | transcript | ENST00000682010.1 | protein_coding | 1/7 | chr9 | TogoVar | ||||||
IL33_chr9_6210807_6262983 | 6218923 | T | TGTTCTCC | intron_variant | MODIFIER | HG02080.hp1 NA18972.hp1 NA19065.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0306a0001c0002t0002g0307a0001c0002t0002g0308 | 3 | 362 | 0.0083 | 7 | c.-12 others(24): Show |
IL33 | ENSG00000137033.12 | transcript | ENST00000682010.1 | protein_coding | 1/7 | chr9 | TogoVar | ||||||
IL37_chr2_112906165_112923882 | 112907718 | T | TATTTTTA | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG01516.hp2 others(26): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0002g0028a0002c0002t0001g0004a0002c0002t0002g0055others(7): Show | 29 | 406 | 0.0714 | 7 | c.-35 others(18): Show |
IL37 | ENSG00000125571.10 | transcript | ENST00000263326.8 | protein_coding | 3446 | chr2 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1334536 | G | GAAAAAAA | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01256.hp2 HG02080.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0001 | a0001c0001t0001g0101a0001c0001t0001g0103a0001c0001t0001g0104others(2): Show | 5 | 115 | 0.0435 | 7 | c.-24 others(18): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 2248 | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1348885 | T | TTCGTTTC | intron_variant | MODIFIER | HG01123.hp1 HG02280.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0012a0001c0001t0002g0056a0001c0001t0003g0036others(5): Show | 8 | 115 | 0.0696 | 7 | c.298 others(22): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IL3RA_chrX_1331785_1387689 | 1350890 | A | AGACAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(56): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0003a0001c0020others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0024others(56): Show | 59 | 115 | 0.5130 | 7 | c.299 others(24): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 4/11 | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1353942 | G | GGACCCCC | intron_variant | MODIFIER | HG01192.hp2 | a0006 | a0006c0011 | a0006c0011t0004 | a0006c0011t0004g0059 | 1 | 115 | 0.0087 | 7 | c.616 others(24): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 6/11 | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1354978 | A | AAGGTGTG | intron_variant | MODIFIER | NA19058.hp1 | a0015 | a0015c0017 | a0015c0017t0001 | a0015c0017t0001g0004 | 1 | 115 | 0.0087 | 7 | c.617 others(24): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IL3RA_chrX_1331785_1387689 | 1356960 | G | GTCAACTT | intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 115 | 0.0087 | 7 | c.732 others(22): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 7/11 | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1365493 | G | GGGGGAGC | intron_variant | MODIFIER | HG01192.hp2 | a0006 | a0006c0011 | a0006c0011t0004 | a0006c0011t0004g0059 | 1 | 115 | 0.0087 | 7 | c.874 others(22): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IL3RA_chrX_1331785_1387689 | 1365664 | G | GGGTGCGC | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 115 | 0.0087 | 7 | c.874 others(22): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IL3RA_chrX_1331785_1387689 | 1365819 | G | GTGGGGGT | intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 115 | 0.0087 | 7 | c.874 others(22): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1365917 | G | GGGTGCGC | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 115 | 0.0087 | 7 | c.874 others(22): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IL3RA_chrX_1331785_1387689 | 1365942 | G | GGGTGCGC | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 115 | 0.0087 | 7 | c.874 others(22): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IL3RA_chrX_1331785_1387689 | 1365985 | G | GGGTGCGC | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 115 | 0.0087 | 7 | c.874 others(22): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IL3RA_chrX_1331785_1387689 | 1366658 | G | GGGTGCGC | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0092 | 1 | 115 | 0.0087 | 7 | c.874 others(24): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IL5RA_chr3_3061324_3115374 | 3068587 | C | CAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02572.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0050a0001c0001t0130a0001c0001t0131others(4): Show | a0001c0001t0050g0382a0001c0001t0050g0416a0001c0001t0130g0196others(5): Show | 8 | 454 | 0.0176 | 7 | c.*16 others(18): Show |
IL5RA | ENSG00000091181.20 | transcript | ENST00000446632.7 | protein_coding | 12/12 | 1637 | chr3 | TogoVar | |||||
IL5RA_chr3_3061324_3115374 | 3096289 | A | AAAAGAAG | intron_variant | MODIFIER | HG00642.hp1 HG02145.hp1 HG02257.hp2 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0009a0002c0002t0010others(9): Show | a0002c0002t0006g0375a0002c0002t0006g0379a0002c0002t0009g0378others(10): Show | 13 | 454 | 0.0286 | 7 | c.710 others(22): Show |
IL5RA | ENSG00000091181.20 | transcript | ENST00000446632.7 | protein_coding | 7/11 | chr3 | TogoVar | ||||||
IL6R_chr1_154400343_154474450 | 154447442 | A | ATATATAT | intron_variant | MODIFIER | HG00140.hp1 HG01255.hp1 HG01361.hp1 others(10): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0014others(2): Show | a0002c0002t0001g0028a0002c0002t0001g0076a0002c0002t0001g0089others(10): Show | 13 | 346 | 0.0376 | 7 | c.950 others(22): Show |
IL6R | ENSG00000160712.13 | transcript | ENST00000368485.8 | protein_coding | 6/9 | chr1 | TogoVar | ||||||
IL6_chr7_22722200_22736998 | 22732292 | T | TATATATA | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02965.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0012a0004c0005t0001g0012a0004c0005t0001g0025 | 7 | 418 | 0.0168 | 7 | c.*71 others(16): Show |
IL6 | ENSG00000136244.12 | transcript | ENST00000258743.10 | protein_coding | 295 | chr7 | TogoVar | ||||||
IL9R_chrX_155992696_156015817 | 156000145 | A | AAATATAT | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00597.hp2 others(19): Show |
a0001a0007a0021 | a0001c0001a0001c0003a0007c0018others(1): Show | a0001c0001t0002a0001c0003t0001a0001c0003t0009others(2): Show | a0001c0001t0002g0010a0001c0003t0001g0004a0001c0003t0001g0017others(6): Show | 22 | 220 | 0.1000 | 7 | c.28+ others(22): Show |
IL9R | ENSG00000124334.18 | transcript | ENST00000244174.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IL9R_chrX_155992696_156015817 | 156000145 | A | ATATATAT | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0124 | 1 | 220 | 0.0046 | 7 | c.28+ others(22): Show |
IL9R | ENSG00000124334.18 | transcript | ENST00000244174.11 | protein_coding | 1/8 | chrX | TogoVar | ||||||
ILF3_chr19_10649346_10697400 | 10651132 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01934.hp2 HG02615.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0018a0001c0002t0005g0020a0001c0002t0005g0021others(3): Show | 6 | 346 | 0.0173 | 7 | c.-34 others(18): Show |
ILF3 | ENSG00000129351.18 | transcript | ENST00000588657.6 | protein_coding | 3213 | chr19 | TogoVar | ||||||
ILF3_chr19_10649346_10697400 | 10656798 | G | GTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(50): Show |
a0001a0002a0004 | a0001c0001a0002c0005a0004c0008 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0160others(48): Show | 53 | 346 | 0.1532 | 7 | c.-91 others(24): Show |
ILF3 | ENSG00000129351.18 | transcript | ENST00000588657.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ILF3_chr19_10649346_10697400 | 10672351 | A | ATTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG01070.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0002t0003others(1): Show | a0001c0001t0001g0144a0001c0001t0001g0305a0001c0001t0001g0306others(7): Show | 13 | 346 | 0.0376 | 7 | c.411 others(22): Show |
ILF3 | ENSG00000129351.18 | transcript | ENST00000588657.6 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ILRUN_chr6_34582288_34701767 | 34682021 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0024others(36): Show | 39 | 316 | 0.1234 | 7 | c.158 others(26): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
ILVBL_chr19_15109987_15130786 | 15128942 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02615.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0064a0001c0005t0001g0024 | 4 | 440 | 0.0091 | 7 | c.-32 others(18): Show |
ILVBL | ENSG00000105135.16 | transcript | ENST00000263383.8 | protein_coding | 3157 | chr19 | TogoVar | ||||||
IMMT_chr2_86138936_86200462 | 86145065 | C | CAGGCAGT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(119): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0002others(2): Show | a0001c0001t0001g0093a0001c0001t0001g0200a0001c0001t0001g0201others(112): Show | 122 | 378 | 0.3228 | 7 | c.166 others(24): Show |
IMMT | ENSG00000132305.22 | transcript | ENST00000410111.8 | protein_coding | 14/14 | chr2 | TogoVar | ||||||
IMMT_chr2_86138936_86200462 | 86152440 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01358.hp2 others(33): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0002others(1): Show | a0001c0001t0001g0262a0001c0001t0001g0267a0001c0001t0001g0277others(33): Show | 36 | 378 | 0.0952 | 7 | c.117 others(24): Show |
IMMT | ENSG00000132305.22 | transcript | ENST00000410111.8 | protein_coding | 11/14 | chr2 | TogoVar | ||||||
IMMT_chr2_86138936_86200462 | 86156593 | C | CAAAAAAA | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0247a0001c0007t0002g0248a0001c0007t0002g0249others(3): Show | 6 | 378 | 0.0159 | 7 | c.116 others(26): Show |
IMMT | ENSG00000132305.22 | transcript | ENST00000410111.8 | protein_coding | 10/14 | chr2 | TogoVar | ||||||
IMMT_chr2_86138936_86200462 | 86164052 | A | ATTTTTTT | intron_variant | MODIFIER | HG02572.hp2 HG02622.hp2 HG02735.hp1 others(7): Show |
a0001a0004 | a0001c0007a0004c0008 | a0001c0007t0002a0004c0008t0002 | a0001c0007t0002g0240a0001c0007t0002g0244a0001c0007t0002g0247others(7): Show | 10 | 378 | 0.0265 | 7 | c.793 others(24): Show |
IMMT | ENSG00000132305.22 | transcript | ENST00000410111.8 | protein_coding | 7/14 | chr2 | TogoVar | ||||||
IMMT_chr2_86138936_86200462 | 86164689 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG02080.hp2 others(31): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0001 | a0001c0002t0001g0257a0001c0002t0001g0334a0003c0005t0001g0019others(29): Show | 34 | 378 | 0.0900 | 7 | c.792 others(24): Show |
IMMT | ENSG00000132305.22 | transcript | ENST00000410111.8 | protein_coding | 7/14 | chr2 | TogoVar | ||||||
IMMT_chr2_86138936_86200462 | 86198040 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG01106.hp2 others(10): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0012 | a0001c0002t0001a0002c0003t0001a0002c0012t0001 | a0001c0002t0001g0290a0001c0002t0001g0294a0001c0002t0001g0308others(10): Show | 13 | 378 | 0.0344 | 7 | c.-26 others(18): Show |
IMMT | ENSG00000132305.22 | transcript | ENST00000410111.8 | protein_coding | 2579 | chr2 | TogoVar | ||||||
IMPA2_chr18_11976507_12035877 | 11978211 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00673.hp1 HG01884.hp1 HG02071.hp1 others(12): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0257a0001c0001t0001g0278a0001c0002t0001g0193others(12): Show | 15 | 364 | 0.0412 | 7 | c.-34 others(18): Show |
IMPA2 | ENSG00000141401.12 | transcript | ENST00000269159.8 | protein_coding | 3295 | chr18 | TogoVar | ||||||
IMPA2_chr18_11976507_12035877 | 12022528 | A | AAATATAT | intron_variant | MODIFIER | HG00438.hp1 HG02257.hp1 HG03831.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0203a0001c0002t0001g0018a0001c0002t0001g0171others(4): Show | 7 | 364 | 0.0192 | 7 | c.491 others(24): Show |
IMPA2 | ENSG00000141401.12 | transcript | ENST00000269159.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
IMPA2_chr18_11976507_12035877 | 12027567 | A | ATTTTTTT | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0014a0001c0001t0001g0015others(3): Show | 6 | 364 | 0.0165 | 7 | c.491 others(22): Show |
IMPA2 | ENSG00000141401.12 | transcript | ENST00000269159.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
IMPDH1_chr7_128387277_128414982 | 128412944 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01123.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0007a0001c0001t0001g0020a0001c0001t0001g0080others(6): Show | 14 | 414 | 0.0338 | 7 | c.-30 others(18): Show |
IMPDH1 | ENSG00000106348.19 | transcript | ENST00000338791.11 | protein_coding | 2963 | chr7 | TogoVar | ||||||
IMPG1_chr6_75916114_76077662 | 75924671 | T | TATATATA | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00558.hp2 others(66): Show |
a0001a0002a0005others(7): Show | a0001c0001a0002c0002a0005c0006others(7): Show | a0001c0001t0001a0001c0001t0009a0002c0002t0001others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0021others(65): Show | 69 | 302 | 0.2285 | 7 | c.224 others(24): Show |
IMPG1 | ENSG00000112706.12 | transcript | ENST00000369950.8 | protein_coding | 15/16 | chr6 | TogoVar | ||||||
IMPG1_chr6_75916114_76077662 | 75924682 | T | TATAATTA | intron_variant | MODIFIER | HG01358.hp1 NA18941.hp2 NA18945.hp2 |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0006c0005t0011 | a0001c0001t0001g0175a0001c0001t0001g0275a0006c0005t0011g0149 | 3 | 302 | 0.0099 | 7 | c.224 others(24): Show |
IMPG1 | ENSG00000112706.12 | transcript | ENST00000369950.8 | protein_coding | 15/16 | chr6 | TogoVar | ||||||
IMPG1_chr6_75916114_76077662 | 75924725 | A | AATTATAT | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00621.hp1 others(76): Show |
a0001a0002a0008others(8): Show | a0001c0001a0002c0002a0008c0008others(8): Show | a0001c0001t0001a0001c0001t0012a0002c0002t0001others(11): Show | a0001c0001t0001g0010a0001c0001t0001g0042a0001c0001t0001g0043others(76): Show | 79 | 302 | 0.2616 | 7 | c.224 others(26): Show |
IMPG1 | ENSG00000112706.12 | transcript | ENST00000369950.8 | protein_coding | 15/16 | chr6 | TogoVar | ||||||
IMPG1_chr6_75916114_76077662 | 75924728 | T | TATATATA | intron_variant | MODIFIER | HG00140.hp1 HG00673.hp2 HG00741.hp1 others(57): Show |
a0001a0002a0005others(10): Show | a0001c0001a0002c0002a0005c0006others(10): Show | a0001c0001t0001a0001c0001t0009a0002c0002t0001others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0021others(56): Show | 60 | 302 | 0.1987 | 7 | c.224 others(26): Show |
IMPG1 | ENSG00000112706.12 | transcript | ENST00000369950.8 | protein_coding | 15/16 | chr6 | TogoVar | ||||||
IMPG1_chr6_75916114_76077662 | 75974393 | T | TTCCTTCC | intron_variant | MODIFIER | HG00609.hp2 HG00741.hp1 HG01256.hp2 others(10): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0018a0003c0003others(4): Show | a0001c0001t0001a0001c0018t0001a0003c0003t0001others(4): Show | a0001c0001t0001g0184a0001c0018t0001g0107a0003c0003t0001g0017others(9): Show | 13 | 302 | 0.0431 | 7 | c.129 others(28): Show |
IMPG1 | ENSG00000112706.12 | transcript | ENST00000369950.8 | protein_coding | 12/16 | chr6 | TogoVar | ||||||
IMPG2_chr3_101217546_101325575 | 101269209 | C | CCTTCAGG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(330): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0017a0002c0002others(16): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(105): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(317): Show | 333 | 360 | 0.9250 | 7 | c.887 others(22): Show |
IMPG2 | ENSG00000081148.12 | transcript | ENST00000193391.8 | protein_coding | 8/18 | chr3 | TogoVar | ||||||
INAVA_chr1_200889900_200920742 | 200917879 | A | ATATATAT | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02155.hp1 NA18979.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0010a0002c0003t0012 | a0001c0001t0001g0006a0001c0002t0010g0044a0002c0003t0012g0038 | 3 | 424 | 0.0071 | 7 | c.*42 others(18): Show |
INAVA | ENSG00000163362.11 | transcript | ENST00000413687.3 | protein_coding | 2138 | chr1 | TogoVar | ||||||
ING5_chr2_241697039_241734478 | 241701896 | C | CCCCGCAG | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01106.hp1 HG01106.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0009a0001c0001t0013others(4): Show | a0001c0001t0003g0205a0001c0001t0009g0017a0001c0001t0009g0044others(12): Show | 17 | 394 | 0.0432 | 7 | c.-17 others(16): Show |
ING5 | ENSG00000168395.16 | transcript | ENST00000313552.11 | protein_coding | 142 | chr2 | TogoVar | ||||||
INIP_chr9_112678926_112723117 | 112680254 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01884.hp1 HG02165.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0034others(13): Show | 18 | 372 | 0.0484 | 7 | c.*72 others(18): Show |
INIP | ENSG00000148153.14 | transcript | ENST00000374242.9 | protein_coding | 3671 | chr9 | TogoVar |