| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GGT1_chr22_24598193_24633996 | 24605491 | ATTATATA others(57): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0309 | 1 | 426 | 0.0024 | -64 | c.-42 others(83): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | ||||||
| GHR_chr5_42418439_42726878 | 42534178 | GTATGTAT others(57): Show |
G | intron_variant | MODIFIER | HG02896.hp1 HG02922.hp1 NA18522.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0003a0003c0005t0002 | a0001c0001t0003g0068a0001c0001t0003g0069a0003c0005t0002g0111 | 3 | 210 | 0.0143 | -64 | c.-11 others(83): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| GHR_chr5_42418439_42726878 | 42534204 | ATGTATAT others(57): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0002a0002c0002t0001a0003c0003t0003others(8): Show | a0001c0001t0002g0127a0002c0002t0001g0026a0003c0003t0003g0003others(17): Show | 20 | 210 | 0.0952 | -64 | c.-11 others(83): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| GIGYF2_chr2_232692331_232865605 | 232836303 | TATATATA others(57): Show |
T | intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0001 | a0002c0001t0016 | a0002c0001t0016g0058 | 1 | 376 | 0.0027 | -64 | c.276 others(83): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GLT1D1_chr12_128848478_128989968 | 128879440 | TTCTTTCT others(57): Show |
T | intron_variant | MODIFIER | HG02257.hp1 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0045 | 1 | 320 | 0.0031 | -64 | c.217 others(81): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 2/11 | chr12 | TogoVar | ||||||
| GNAL_chr18_11684264_11890685 | 11826260 | GGGGAAGG others(57): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0164a0001c0001t0177 | a0001c0001t0164g0026a0001c0001t0177g0080 | 2 | 248 | 0.0081 | -64 | c.722 others(81): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GNAL_chr18_11747085_11890685 | 11826260 | GGGGAAGG others(57): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0153 | a0001c0001t0037g0053a0001c0001t0153g0052 | 2 | 284 | 0.0070 | -64 | c.491 others(81): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GNG12_chr1_67696475_67838467 | 67710026 | ATATATAT others(57): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0002 | 2 | 274 | 0.0073 | -64 | c.-26 others(81): Show |
GNG12 | ENSG00000172380.6 | transcript | ENST00000370982.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| GNG13_chr16_793041_805734 | 795497 | CAAACACA others(57): Show |
C | downstream_gene_variant | MODIFIER | HG02083.hp2 HG02165.hp1 NA18987.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0010 | 3 | 422 | 0.0071 | -64 | c.*31 others(75): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2543 | chr16 | TogoVar | ||||||
| GOLGA4_chr3_37238271_37371879 | 37257993 | ATATGTAT others(57): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 272 | 0.0037 | -64 | c.162 others(81): Show |
GOLGA4 | ENSG00000144674.19 | transcript | ENST00000361924.7 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GOSR1_chr17_30472408_30532592 | 30523579 | GGATCAGC others(57): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0035 | 1 | 306 | 0.0033 | -64 | c.*12 others(75): Show |
GOSR1 | ENSG00000108587.16 | transcript | ENST00000451249.7 | protein_coding | 9/9 | 1202 | chr17 | TogoVar | |||||
| GPC5_chr13_91393621_92872237 | 92385397 | TACACATA others(57): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02809.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0030a0001c0001t0002g0034a0001c0001t0002g0039others(2): Show | 5 | 42 | 0.1191 | -64 | c.156 others(87): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| GPC5_chr13_91393621_92872237 | 92385741 | GTATATAT others(57): Show |
G | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 42 | 0.0238 | -64 | c.156 others(87): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| GPHN_chr14_66503147_67186803 | 66629104 | TTTATATA others(57): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0001 | 1 | 234 | 0.0043 | -64 | c.65- others(81): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 1/22 | chr14 | TogoVar | ||||||
| GPR157_chr1_9095305_9134102 | 9123488 | TATATAAA others(57): Show |
T | intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0175 | 1 | 404 | 0.0025 | -64 | c.383 others(81): Show |
GPR157 | ENSG00000180758.12 | transcript | ENST00000377411.5 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
| GPR87_chr3_151289086_151321820 | 151293576 | TACACACA others(57): Show |
T | downstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0127 | 1 | 446 | 0.0022 | -64 | c.*52 others(73): Show |
GPR87 | ENSG00000138271.6 | transcript | ENST00000260843.5 | protein_coding | 509 | chr3 | TogoVar | ||||||
| GREB1_chr2_11529045_11647788 | 11618136 | CACTCCTG others(57): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00639.hp1 others(25): Show |
a0002a0003a0004others(9): Show | a0002c0005a0002c0007a0002c0034others(11): Show | a0002c0005t0007a0002c0007t0007a0002c0034t0019others(16): Show | a0002c0005t0007g0031a0002c0005t0007g0061a0002c0007t0007g0150others(25): Show | 28 | 308 | 0.0909 | -64 | c.341 others(80): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 21/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GRHL1_chr2_9946693_10007277 | 9998447 | TGTATATA others(57): Show |
T | intron_variant | MODIFIER | HG02056.hp2 NA18947.hp1 NA18957.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0264 | 4 | 418 | 0.0096 | -64 | c.167 others(81): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GRIK2_chr6_101388708_102075083 | 101761802 | TTCCTTCC others(57): Show |
T | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 116 | 0.0086 | -64 | c.952 others(83): Show |
GRIK2 | ENSG00000164418.22 | transcript | ENST00000369134.9 | protein_coding | 7/16 | chr6 | TogoVar | ||||||
| GSDME_chr7_24693355_24762464 | 24760694 | AAAATAAA others(57): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0334 | 1 | 410 | 0.0024 | -64 | c.-33 others(75): Show |
GSDME | ENSG00000105928.16 | transcript | ENST00000645220.1 | protein_coding | 3231 | chr7 | TogoVar | ||||||
| GSG1L_chr16_27782528_28068714 | 27805590 | GGGGGTGG others(57): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01106.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0018others(6): Show | a0001c0001t0001g0070a0001c0001t0001g0077a0001c0001t0001g0152others(16): Show | 19 | 240 | 0.0792 | -64 | c.898 others(81): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
| GSG1L_chr16_27782528_28068714 | 27888468 | CTCTCTCT others(57): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01257.hp2 HG01884.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0018others(2): Show | a0001c0001t0002g0027a0001c0001t0003g0146a0001c0001t0018g0058others(3): Show | 6 | 240 | 0.0250 | -64 | c.398 others(81): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
| HAO1_chr20_7877985_7945458 | 7905191 | AGAATAAG others(57): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp2 HG02622.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0002 | a0001c0001t0001g0074a0001c0001t0001g0075a0001c0001t0001g0076others(1): Show | 4 | 348 | 0.0115 | -64 | c.721 others(79): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 4/7 | chr20 | TogoVar | ||||||
| HCN1_chr5_45249948_45701380 | 45373567 | TTATATAC others(57): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 226 | 0.0044 | -64 | c.123 others(85): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
| HCN1_chr5_45249948_45701380 | 45375420 | TTATGATA others(57): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02647.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0031a0001c0001t0032 | a0001c0001t0001g0074a0001c0001t0001g0076a0001c0001t0001g0077others(2): Show | 5 | 226 | 0.0221 | -64 | c.123 others(85): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
| HCN1_chr5_45249948_45701380 | 45375556 | TTATATAT others(57): Show |
T | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 226 | 0.0044 | -64 | c.123 others(85): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
| HDAC9_chr7_18490749_19007416 | 18732547 | ATGTATAT others(57): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG02109.hp2 HG02145.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0072others(12): Show | 15 | 156 | 0.0962 | -64 | c.190 others(83): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| HECTD4_chr12_112155195_112387431 | 112323961 | TCTTTCTT others(57): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0031 | a0001c0031t0008 | a0001c0031t0008g0251 | 1 | 270 | 0.0037 | -64 | c.178 others(81): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | ||||||
| HECTD4_chr12_112155195_112387431 | 112323965 | TCTTCCTT others(57): Show |
T | intron_variant | MODIFIER | HG01934.hp2 HG02129.hp2 HG02523.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0008others(3): Show | a0001c0001t0001g0220a0001c0002t0001g0181a0001c0002t0001g0226others(7): Show | 10 | 270 | 0.0370 | -64 | c.178 others(81): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | ||||||
| HERPUD2_chr7_35627659_35700135 | 35682262 | TATATATA others(57): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG02080.hp1 HG02818.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0003g0126a0001c0001t0003g0129a0001c0001t0003g0132others(15): Show | 18 | 392 | 0.0459 | -64 | c.148 others(81): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | ||||||
| HHIPL1_chr14_99640129_99685569 | 99656828 | AAAGAAAG others(57): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01099.hp2 HG01891.hp1 others(6): Show |
a0001a0002a0006 | a0001c0002a0002c0001a0006c0012 | a0001c0002t0003a0002c0001t0001a0002c0001t0005others(1): Show | a0001c0002t0003g0202a0002c0001t0001g0160a0002c0001t0001g0166others(6): Show | 9 | 374 | 0.0241 | -64 | c.903 others(79): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| HHLA1_chr8_132056480_132116157 | 132113392 | ACTAGAAG others(57): Show |
A | upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 380 | 0.0026 | -64 | c.-23 others(75): Show |
HHLA1 | ENSG00000132297.13 | transcript | ENST00000414222.2 | protein_coding | 2236 | chr8 | TogoVar | ||||||
| HIP1_chr7_75528298_75743941 | 75663986 | ATATATAT others(57): Show |
A | intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 254 | 0.0039 | -64 | c.121 others(83): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
| HMOX1_chr22_35376096_35399207 | 35389331 | TTTCTTTC others(57): Show |
T | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 384 | 0.0026 | -64 | c.637 others(79): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | chr22 | TogoVar | ||||||
| HPGDS_chr4_94293535_94347836 | 94297766 | GGTGAAGG others(57): Show |
G | downstream_gene_variant | MODIFIER | HG03098.hp2 | a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0281 | 1 | 312 | 0.0032 | -64 | c.*16 others(75): Show |
HPGDS | ENSG00000163106.11 | transcript | ENST00000295256.10 | protein_coding | 768 | chr4 | TogoVar | ||||||
| HSFX4_chrX_149924573_149936287 | 149930854 | AGTGCCAC others(57): Show |
A | frameshift_variant | HIGH | HG02897.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0001 | 1 | 301 | 0.0033 | -64 | c.752 others(71): Show |
p.Ser others(5): Show |
HSFX4 | ENSG00000283463.2 | transcript | ENST00000457775.3 | protein_coding | 2/2 | 824/1256 | 752/1002 | 251/333 | chrX | TogoVar | ||
| IBA57_chr1_228160804_228187257 | 228174111 | GGCTGTGG others(57): Show |
G | intron_variant | MODIFIER | HG01891.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0046 | a0001c0001t0032g0210a0001c0001t0046g0212 | 2 | 416 | 0.0048 | -64 | c.342 others(79): Show |
IBA57 | ENSG00000181873.13 | transcript | ENST00000366711.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| IBA57_chr1_228160804_228187257 | 228174448 | GCTGTGGG others(57): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01074.hp1 HG01258.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0007a0001c0001t0018a0001c0001t0126others(6): Show | a0001c0001t0007g0035a0001c0001t0007g0181a0001c0001t0007g0221others(9): Show | 13 | 416 | 0.0313 | -64 | c.342 others(79): Show |
IBA57 | ENSG00000181873.13 | transcript | ENST00000366711.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ICE1_chr5_5417677_5495220 | 5492932 | AGGAGGGA others(57): Show |
A | downstream_gene_variant | MODIFIER | HG02622.hp1 HG03041.hp2 HG03130.hp2 |
a0009 | a0009c0014a0009c0031 | a0009c0014t0004a0009c0031t0004 | a0009c0014t0004g0038a0009c0014t0004g0090a0009c0031t0004g0051 | 3 | 364 | 0.0082 | -64 | c.*36 others(75): Show |
ICE1 | ENSG00000164151.12 | transcript | ENST00000296564.9 | protein_coding | 2713 | chr5 | TogoVar | ||||||
| IFNA4_chr9_21181618_21192587 | 21184274 | TTTCTTTC others(57): Show |
T | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 428 | 0.0023 | -64 | c.*26 others(75): Show |
IFNA4 | ENSG00000236637.5 | transcript | ENST00000421715.3 | protein_coding | 2343 | chr9 | TogoVar | ||||||
| IFT140_chr16_1505427_1617072 | 1507811 | GGTGTGTG others(57): Show |
G | downstream_gene_variant | MODIFIER | HG01081.hp1 HG03041.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073a0001c0002t0001g0190 | 2 | 334 | 0.0060 | -64 | c.*30 others(75): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 2615 | chr16 | TogoVar | ||||||
| IFT140_chr16_1505427_1617072 | 1592614 | AGGACAGG others(57): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00609.hp2 others(35): Show |
a0001a0003a0005others(5): Show | a0001c0020a0003c0005a0003c0017others(12): Show | a0001c0020t0003a0003c0005t0001a0003c0005t0003others(13): Show | a0001c0020t0003g0138a0001c0020t0003g0139a0003c0005t0001g0141others(35): Show | 38 | 334 | 0.1138 | -64 | c.370 others(77): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
| IFT74_chr9_26951412_27071134 | 27004312 | CTTGGAAG others(57): Show |
C | intron_variant | MODIFIER | NA18967.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0068 | 1 | 342 | 0.0029 | -64 | c.588 others(81): Show |
IFT74 | ENSG00000096872.17 | transcript | ENST00000380062.10 | protein_coding | 8/19 | chr9 | TogoVar | ||||||
| IGF1R_chr15_98643539_98969530 | 98787552 | TAGAGTAT others(57): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0095 | a0001c0001t0095g0175 | 1 | 210 | 0.0048 | -64 | c.640 others(83): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| IGF2R_chr6_159964082_160116504 | 160100723 | CCTTTTTT others(57): Show |
C | intron_variant | MODIFIER | HG01952.hp1 HG01975.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0021a0002c0003t0001 | a0001c0001t0021g0044a0002c0003t0001g0189 | 2 | 310 | 0.0065 | -64 | c.684 others(83): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 45/47 | chr6 | TogoVar | ||||||
| IGFN1_chr1_201185824_201233952 | 201233083 | GGGAATGG others(57): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 | a0011 | a0011c0135 | a0011c0135t0007 | a0011c0135t0007g0077 | 1 | 428 | 0.0023 | -64 | c.*46 others(75): Show |
IGFN1 | ENSG00000163395.17 | transcript | ENST00000335211.9 | protein_coding | 4132 | chr1 | TogoVar | ||||||
| IL4_chr5_132668989_132687678 | 132675865 | GTGTGTGT others(57): Show |
G | intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 422 | 0.0024 | -64 | c.183 others(81): Show |
IL4 | ENSG00000113520.11 | transcript | ENST00000231449.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| INPP4B_chr4_142018160_142851301 | 142581466 | GGAAATAG others(57): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG01496.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0023a0001c0001t0001g0085a0001c0001t0002g0031others(15): Show | 18 | 90 | 0.2000 | -64 | c.-19 others(87): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 2/25 | chr4 | TogoVar | ||||||
| INPP5A_chr10_132532787_132788480 | 132767285 | GAGCTTGG others(57): Show |
G | intron_variant | MODIFIER | HG00621.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0061 | 1 | 204 | 0.0049 | -64 | c.977 others(81): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| INPP5D_chr2_233055342_233212903 | 233065563 | TTTTCTTT others(57): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00597.hp1 others(67): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0090a0001c0001t0001g0092a0001c0001t0001g0094others(67): Show | 70 | 310 | 0.2258 | -64 | c.134 others(81): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |