| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ERICH5_chr8_98059568_98098609 | 98073430 | CTCTATAT others(61): Show |
C | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 442 | 0.0023 | -68 | c.58+ others(83): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ERICH5_chr8_98059568_98098609 | 98073432 | CTATATAT others(61): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0354a0001c0001t0002g0427 | 2 | 442 | 0.0045 | -68 | c.58+ others(83): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ERICH5_chr8_98059568_98098609 | 98073448 | ATATATAT others(61): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG02895.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0348a0001c0001t0001g0349a0001c0001t0001g0363others(2): Show | 5 | 442 | 0.0113 | -68 | c.58+ others(83): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ESYT2_chr7_158725997_158834509 | 158745139 | ATAATGAG others(61): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG03130.hp1 |
a0001 | a0001c0014 | a0001c0014t0015 | a0001c0014t0015g0173a0001c0014t0015g0174 | 2 | 370 | 0.0054 | -68 | c.164 others(87): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 16/22 | chr7 | TogoVar | ||||||
| ESYT2_chr7_158725997_158834509 | 158745223 | AGGCAAGC others(61): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show |
a0001a0004a0005 | a0001c0001a0001c0007a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(121): Show | 126 | 370 | 0.3405 | -68 | c.164 others(87): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 16/22 | chr7 | TogoVar | ||||||
| ETV5_chr3_186041314_186114089 | 186111267 | GTTCTGGG others(61): Show |
G | upstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0184 | 1 | 340 | 0.0029 | -68 | c.-24 others(79): Show |
ETV5 | ENSG00000244405.8 | transcript | ENST00000306376.10 | protein_coding | 2179 | chr3 | TogoVar | ||||||
| EVC_chr4_5706201_5819305 | 5748549 | TGCCCTCC others(61): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(192): Show |
a0001a0002a0004others(37): Show | a0001c0002a0001c0004a0001c0023others(53): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(90): Show | a0001c0002t0001g0133a0001c0002t0002g0060a0001c0002t0002g0061others(192): Show | 195 | 369 | 0.5285 | -68 | c.109 others(85): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 8/20 | chr4 | TogoVar | ||||||
| EVC_chr4_5706201_5819305 | 5757821 | ATAAGAAT others(61): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02258.hp2 others(8): Show |
a0006a0017a0022others(6): Show | a0006c0033a0017c0038a0022c0084others(6): Show | a0006c0033t0004a0006c0033t0016a0017c0038t0004others(7): Show | a0006c0033t0004g0199a0006c0033t0016g0315a0017c0038t0004g0080others(8): Show | 11 | 369 | 0.0298 | -68 | c.156 others(87): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| EXOC2_chr6_480154_698139 | 501157 | CTATATAT others(61): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02818.hp2 |
a0001a0002 | a0001c0004a0002c0005 | a0001c0004t0002a0002c0005t0002 | a0001c0004t0002g0156a0002c0005t0002g0152 | 2 | 272 | 0.0074 | -68 | c.238 others(87): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
| EXOC6B_chr2_72170984_72831033 | 72512314 | CGGAAGGA others(61): Show |
C | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 104 | 0.0096 | -68 | c.116 others(85): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 11/21 | chr2 | TogoVar | ||||||
| EXOC6B_chr2_72170984_72831033 | 72512359 | GGAAGGAA others(61): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0006 | a0001c0006t0020 | a0001c0006t0020g0069 | 1 | 104 | 0.0096 | -68 | c.116 others(85): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 11/21 | chr2 | TogoVar | ||||||
| EYS_chr6_63714980_65712226 | 65317817 | CCTTCCTT others(61): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02809.hp1 HG03209.hp2 |
a0002a0008a0011 | a0002c0008a0008c0007a0011c0001 | a0002c0008t0002a0008c0007t0001a0011c0001t0001 | a0002c0008t0002g0020a0008c0007t0001g0009a0011c0001t0001g0013 | 3 | 24 | 0.1250 | -68 | c.176 others(89): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 11/42 | chr6 | TogoVar | ||||||
| EZR_chr6_158760748_158824368 | 158803538 | TATATATG others(61): Show |
T | intron_variant | MODIFIER | HG03540.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111a0001c0001t0001g0139 | 2 | 312 | 0.0064 | -68 | c.13- others(85): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
| EZR_chr6_158760748_158824368 | 158803568 | TATATATA others(61): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 312 | 0.0032 | -68 | c.13- others(85): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
| FAM174B_chr15_92612448_92660775 | 92631047 | ATATATTA others(61): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02486.hp1 HG02717.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0031others(2): Show | a0001c0001t0001g0027a0001c0001t0009g0029a0001c0001t0009g0123others(3): Show | 6 | 394 | 0.0152 | -68 | c.345 others(83): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
| FAM174B_chr15_92612448_92660775 | 92631268 | TTATATTA others(61): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG02717.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0001g0027a0001c0001t0001g0330a0001c0001t0006g0240others(6): Show | 9 | 394 | 0.0228 | -68 | c.345 others(83): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
| FAM174B_chr15_92612448_92660775 | 92631300 | ATAATATA others(61): Show |
A | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0274 | 1 | 394 | 0.0025 | -68 | c.345 others(84): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
| FAM210A_chr18_13658347_13731558 | 13718432 | GCCCCTTA others(61): Show |
G | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0106 | 1 | 326 | 0.0031 | -68 | c.-29 others(85): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 1/3 | chr18 | TogoVar | ||||||
| FBRSL1_chr12_132485151_132590188 | 132552723 | CGGAGGCC others(61): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG03098.hp1 HG03195.hp1 others(2): Show |
a0000a0001a0003 | a0000c0009a0000c0030a0001c0011others(1): Show | a0000c0009t0001a0000c0030t0019a0001c0011t0019others(1): Show | a0000c0009t0001g0224a0000c0030t0019g0145a0000c0030t0019g0147others(2): Show | 5 | 348 | 0.0144 | -68 | c.645 others(85): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| FBXL16_chr16_687500_710801 | 707559 | AAGCGGTG others(61): Show |
A | upstream_gene_variant | MODIFIER | HG02135.hp2 NA18990.hp2 NA19004.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 6 | 372 | 0.0161 | -68 | c.-21 others(79): Show |
FBXL16 | ENSG00000127585.13 | transcript | ENST00000397621.6 | protein_coding | 1759 | chr16 | TogoVar | ||||||
| FBXL16_chr16_687500_710801 | 707613 | CCCACCTC others(61): Show |
C | upstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02280.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0035a0001c0001t0001g0104a0001c0001t0001g0105others(7): Show | 14 | 372 | 0.0376 | -68 | c.-21 others(79): Show |
FBXL16 | ENSG00000127585.13 | transcript | ENST00000397621.6 | protein_coding | 1813 | chr16 | TogoVar | ||||||
| FBXL18_chr7_5470797_5518809 | 5493968 | AAAATACA others(61): Show |
A | intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0011 | 1 | 338 | 0.0030 | -68 | c.178 others(87): Show |
FBXL18 | ENSG00000155034.21 | transcript | ENST00000382368.8 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
| FBXO11_chr2_47801920_47911498 | 47900647 | CACACGTA others(61): Show |
C | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 318 | 0.0031 | -68 | c.232 others(85): Show |
FBXO11 | ENSG00000138081.22 | transcript | ENST00000403359.8 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| FBXO34_chr14_55266421_55358611 | 55331677 | ATATATAT others(61): Show |
A | intron_variant | MODIFIER | NA18960.hp1 NA18961.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0058a0003c0003t0002g0104 | 2 | 334 | 0.0060 | -68 | c.-10 others(87): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| FGD3_chr9_92942523_93041233 | 93010629 | GACACACA others(61): Show |
G | intron_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0106 | 1 | 322 | 0.0031 | -68 | c.976 others(83): Show |
FGD3 | ENSG00000127084.19 | transcript | ENST00000375482.8 | protein_coding | 7/17 | chr9 | TogoVar | ||||||
| FIRRM_chr1_169790040_169859080 | 169850980 | CTTTTTTT others(61): Show |
C | intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0377 | 1 | 420 | 0.0024 | -68 | c.224 others(85): Show |
FIRRM | ENSG00000000460.17 | transcript | ENST00000359326.9 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| FLT4_chr5_180596506_180654600 | 180635051 | TGGATGGA others(61): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01257.hp1 others(2): Show |
a0002a0010 | a0002c0002a0010c0021 | a0002c0002t0001a0010c0021t0001 | a0002c0002t0001g0002a0002c0002t0001g0353a0002c0002t0001g0355others(1): Show | 5 | 388 | 0.0129 | -68 | c.59- others(83): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | ||||||
| FLT4_chr5_180596506_180654600 | 180635278 | GTGGATGG others(61): Show |
G | intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0076 | 1 | 388 | 0.0026 | -68 | c.59- others(83): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | ||||||
| FLT4_chr5_180596506_180654600 | 180635934 | CGGATGGA others(61): Show |
C | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 388 | 0.0026 | -68 | c.59- others(83): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | ||||||
| FOXN1_chr17_28501348_28543900 | 28516911 | CACCTCCA others(61): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0007 | a0007c0019 | a0007c0019t0023 | a0007c0019t0023g0042 | 1 | 356 | 0.0028 | -68 | c.-14 others(85): Show |
FOXN1 | ENSG00000109101.8 | transcript | ENST00000579795.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| FOXN1_chr17_28501348_28543900 | 28517579 | TACCTCCA others(61): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(252): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(177): Show | 255 | 356 | 0.7163 | -68 | c.-14 others(85): Show |
FOXN1 | ENSG00000109101.8 | transcript | ENST00000579795.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| FREM1_chr9_14732152_14915428 | 14860808 | CATATATA others(61): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03098.hp2 HG03139.hp1 |
a0031a0105a0113 | a0031c0146a0105c0139a0113c0140 | a0031c0146t0001a0105c0139t0005a0113c0140t0001 | a0031c0146t0001g0215a0105c0139t0005g0216a0113c0140t0001g0211 | 3 | 346 | 0.0087 | -68 | c.330 others(85): Show |
FREM1 | ENSG00000164946.20 | transcript | ENST00000380880.4 | protein_coding | 3/36 | chr9 | TogoVar | ||||||
| FRK_chr6_115926149_116065891 | 115958636 | AAAGAAAG others(61): Show |
A | intron_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0084 | 1 | 274 | 0.0037 | -68 | c.800 others(85): Show |
FRK | ENSG00000111816.8 | transcript | ENST00000606080.2 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
| FRMD1_chr6_168048095_168084212 | 168061226 | CAGGTGAG others(61): Show |
C | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0164 | 1 | 402 | 0.0025 | -68 | c.104 others(85): Show |
FRMD1 | ENSG00000153303.18 | transcript | ENST00000283309.11 | protein_coding | 8/10 | chr6 | TogoVar | ||||||
| FRMD4A_chr10_13638706_14335924 | 14097980 | ATATTATA others(61): Show |
A | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042a0001c0001t0002g0043 | 2 | 134 | 0.0149 | -68 | c.45+ others(87): Show |
FRMD4A | ENSG00000151474.23 | transcript | ENST00000357447.7 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
| FSHR_chr2_48957157_49159515 | 49127827 | TTCCTCTT others(61): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG02040.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0002c0002t0001 | a0001c0001t0001g0293a0001c0001t0001g0325a0001c0001t0001g0326others(5): Show | 8 | 350 | 0.0229 | -68 | c.152 others(87): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
| FUT8_chr14_65407730_65749121 | 65611184 | TACACACA others(61): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG02602.hp2 NA19057.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0002 | a0001c0001t0002g0032a0001c0006t0002g0076a0001c0006t0002g0077 | 3 | 374 | 0.0080 | -68 | c.204 others(85): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| GABRR2_chr6_89249464_89320299 | 89292779 | CGTATATA others(61): Show |
C | intron_variant | MODIFIER | HG03098.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0028 | a0001c0001t0017g0016a0001c0001t0028g0187 | 2 | 366 | 0.0055 | -68 | c.220 others(85): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | ||||||
| GALNTL6_chr4_171808404_173046559 | 172606611 | CATATATA others(61): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02735.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0002g0035others(1): Show | 4 | 40 | 0.1000 | -68 | c.554 others(89): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GAS2L3_chr12_100568684_100633288 | 100601857 | GAGATGTT others(61): Show |
G | intron_variant | MODIFIER | HG03239.hp2 HG04115.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0032 | 2 | 402 | 0.0050 | -68 | c.303 others(83): Show |
GAS2L3 | ENSG00000139354.11 | transcript | ENST00000547754.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| GAS8_chr16_90017680_90049960 | 90047817 | AGAAGGGG others(61): Show |
A | downstream_gene_variant | MODIFIER | HG02717.hp2 HG03041.hp1 HG03195.hp2 |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0016a0005c0009t0016a0005c0009t0030 | a0001c0001t0016g0346a0005c0009t0016g0126a0005c0009t0030g0014 | 3 | 390 | 0.0077 | -68 | c.*44 others(79): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 2858 | chr16 | TogoVar | ||||||
| GASK1A_chr3_42974311_43062715 | 43016111 | TGTGTGAA others(61): Show |
T | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0044 | 1 | 342 | 0.0029 | -68 | c.4-1 others(83): Show |
GASK1A | ENSG00000144649.10 | transcript | ENST00000430121.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GBE1_chr3_81484703_81766645 | 81504276 | AGATAAAA others(61): Show |
A | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0256 | 1 | 304 | 0.0033 | -68 | c.193 others(87): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 14/15 | chr3 | TogoVar | ||||||
| GBE1_chr3_81484703_81766645 | 81737302 | AATATATA others(61): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00735.hp2 others(42): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0006a0001c0004t0001a0001c0004t0006others(3): Show | a0001c0001t0006g0036a0001c0004t0001g0008a0001c0004t0001g0017others(42): Show | 45 | 304 | 0.1480 | -68 | c.143 others(87): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
| GCGR_chr17_81799150_81819008 | 81809239 | TCTGTCCA others(61): Show |
T | intron_variant | MODIFIER | HG00544.hp1 NA19082.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0078a0001c0002t0002g0106 | 2 | 408 | 0.0049 | -68 | c.60+ others(81): Show |
GCGR | ENSG00000215644.10 | transcript | ENST00000400723.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| GCH1_chr14_54837017_54907826 | 54880486 | TATATATA others(61): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG03195.hp1 NA18948.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0027a0001c0001t0004g0029a0001c0001t0004g0032others(1): Show | 4 | 346 | 0.0116 | -68 | c.344 others(87): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | ||||||
| GGT1_chr22_24598193_24633996 | 24605966 | CATATAAT others(61): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(129): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0045others(127): Show | 132 | 426 | 0.3099 | -68 | c.-42 others(87): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| GIGYF2_chr2_232692331_232865605 | 232836260 | CTACATAT others(61): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01952.hp1 HG01993.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0295a0001c0002t0005g0296a0001c0002t0005g0297others(1): Show | 4 | 376 | 0.0106 | -68 | c.276 others(87): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GLCE_chr15_69155635_69277207 | 69263836 | TTTGTTGG others(61): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0128 | 1 | 342 | 0.0029 | -68 | c.829 others(85): Show |
GLCE | ENSG00000138604.10 | transcript | ENST00000261858.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| GLI2_chr2_120730868_120997653 | 120942906 | CCTCACTC others(61): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG02572.hp2 others(3): Show |
a0001a0002a0005others(2): Show | a0001c0003a0002c0004a0005c0010others(2): Show | a0001c0003t0039a0002c0004t0009a0005c0010t0002others(3): Show | a0001c0003t0039g0149a0002c0004t0009g0102a0005c0010t0002g0033others(3): Show | 6 | 160 | 0.0375 | -68 | c.255 others(85): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |