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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALNS_chr16_88808734_88861947 | 88831630 | AGCGTGGG others(29): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(101): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0030 others(100): Show |
104 | 192 | 0.5417 | -36 | c.100 others(53): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 9/13 | chr16 | TogoVar | |||||||
GALNS_chr16_88808734_88861947 | 88831630 | AGCGTGGG others(29): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02132.hp1 NA20300.hp2 |
a0001a0002 | a0001c0002a0001c0024a0002c0003 | a0001c0002t0002a0001c0024t0002a0002c0003t0001 | a0001c0002t0002g0126 a0001c0024t0002g0364 a0002c0003t0001g0274 |
3 | 91 | 0.0330 | -36 | c.100 others(53): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 9/13 | chr16 | TogoVar | |||||||
GALNS_chr16_88808734_88861947 | 88836762 | GGCTGAGG others(29): Show |
G | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0322 | 1 | 402 | 0.0025 | -36 | c.567 others(51): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 5/13 | chr16 | TogoVar | |||||||
GALNT10_chr5_154185733_154425984 | 154371547 | TGTGTGTG others(29): Show |
T | intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0214 | 1 | 234 | 0.0043 | -36 | c.569 others(53): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154110278 | GATATATA others(29): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0085 | 1 | 114 | 0.0088 | -36 | c.143 others(55): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154110302 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0086 | 1 | 212 | 0.0047 | -36 | c.143 others(55): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154110308 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0202 | 1 | 207 | 0.0048 | -36 | c.143 others(55): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154110310 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0195 | 1 | 207 | 0.0048 | -36 | c.143 others(55): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154110314 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0092 | 1 | 205 | 0.0049 | -36 | c.143 others(55): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154110316 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0207 | 1 | 203 | 0.0049 | -36 | c.143 others(55): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154110318 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0125 | 1 | 201 | 0.0050 | -36 | c.143 others(55): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 31072268 | CACACACA others(29): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00597.hp2 others(34): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0016 others(34): Show |
37 | 214 | 0.1729 | -36 | c.129 others(55): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
GALNT15_chr3_16169680_16235165 | 16232480 | ATATATAT others(29): Show |
A | downstream_gene_variant | MODIFIER | HG01928.hp1 HG01943.hp2 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0064 a0001c0001t0004g0276 a0001c0001t0004g0295 |
3 | 386 | 0.0078 | -36 | c.*49 others(47): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2316 | chr3 | TogoVar | |||||||
GALNT16_chr14_69255158_69359466 | 69322966 | GTGTGTGT others(29): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG02486.hp2 HG03704.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0114 a0001c0001t0002g0286 a0001c0001t0004g0269 others(3): Show |
6 | 304 | 0.0197 | -36 | c.336 others(53): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71657870 | ATGGATGG others(29): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG00735.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0041 others(33): Show |
36 | 74 | 0.4865 | -36 | c.108 others(55): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132247644 | ATGGCCGC others(29): Show |
A | intron_variant | MODIFIER | HG02683.hp2 HG02735.hp2 HG03017.hp1 others(4): Show |
a0001a0004 | a0001c0002a0001c0005a0001c0006others(3): Show | a0001c0002t0001a0001c0002t0005a0001c0005t0001others(4): Show | a0001c0002t0001g0081 a0001c0002t0005g0066 a0001c0005t0001g0008 others(4): Show |
7 | 182 | 0.0385 | -36 | c.107 others(53): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132247758 | GCACTCGC others(29): Show |
G | intron_variant | MODIFIER | HG02735.hp2 HG03017.hp1 HG03942.hp2 |
a0001 | a0001c0006a0001c0021a0001c0041 | a0001c0006t0001a0001c0021t0004a0001c0041t0015 | a0001c0006t0001g0098 a0001c0021t0004g0155 a0001c0041t0015g0178 |
3 | 179 | 0.0168 | -36 | c.107 others(53): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNTL5_chr7_151951446_152024929 | 151981571 | TTCCTTCC others(29): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG01069.hp2 others(41): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0004c0004t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(41): Show |
44 | 325 | 0.1354 | -36 | c.369 others(53): Show |
GALNTL5 | ENSG00000106648.15 | transcript | ENST00000392800.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172206778 | TTTTGTTT others(29): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 | 1 | 40 | 0.0250 | -36 | c.139 others(55): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77259021 | GTGTTGGT others(29): Show |
G | intron_variant | MODIFIER | NA18949.hp1 NA18986.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0145 a0001c0002t0004g0146 |
2 | 357 | 0.0056 | -36 | c.732 others(53): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77259150 | CATGGTGG others(29): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(21): Show | a0001c0001t0003g0028 a0001c0001t0003g0070 a0001c0001t0003g0084 others(54): Show |
61 | 266 | 0.2293 | -36 | c.732 others(53): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GANAB_chr11_62619829_62651613 | 62638580 | GAGGAAGG others(29): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00639.hp1 others(63): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0005a0001c0019others(6): Show | a0001c0001t0001a0001c0005t0001a0001c0019t0001others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 others(33): Show |
66 | 68 | 0.9706 | -36 | c.380 others(51): Show |
GANAB | ENSG00000089597.18 | transcript | ENST00000356638.8 | protein_coding | 4/23 | chr11 | TogoVar | |||||||
GARIN5B_chr19_55349908_55368260 | 55361651 | CCTCTCCT others(29): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02647.hp1 HG02723.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0031 a0001c0001t0001g0099 a0001c0001t0001g0100 others(3): Show |
7 | 354 | 0.0198 | -36 | c.565 others(51): Show |
GARIN5B | ENSG00000180043.11 | transcript | ENST00000424985.3 | protein_coding | 3/10 | chr19 | TogoVar | |||||||
GARRE1_chr19_34249554_34360566 | 34307648 | CATACTTA others(29): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00597.hp2 others(85): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0002a0001c0002t0003a0001c0002t0010others(6): Show | a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0006 others(85): Show |
88 | 280 | 0.3143 | -36 | c.495 others(53): Show |
GARRE1 | ENSG00000166398.14 | transcript | ENST00000299505.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113839378 | GACGGTCA others(29): Show |
G | intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0067 | 1 | 142 | 0.0070 | -36 | c.466 others(51): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 5/14 | chr13 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477058 | TTTCCTTC others(29): Show |
T | upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0065 | 1 | 238 | 0.0042 | -36 | c.-11 others(47): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1064 | chr20 | TogoVar | |||||||
GCGR_chr17_81799150_81819008 | 81808981 | CCCTGCCA others(29): Show |
C | 5_prime_UTR_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002 | 1 | 406 | 0.0025 | -36 | c.-36 others(42): Show |
GCGR | ENSG00000215644.10 | transcript | ENST00000400723.8 | protein_coding | 2/14 | 1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GCGR_chr17_81799150_81819008 | 81814589 | CACGCCAG others(29): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00673.hp1 others(44): Show |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0001a0006c0013t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(11): Show |
47 | 398 | 0.1181 | -36 | c.*90 others(45): Show |
GCGR | ENSG00000215644.10 | transcript | ENST00000400723.8 | protein_coding | 582 | chr17 | TogoVar | |||||||
GCGR_chr17_81799150_81819008 | 81814801 | GGCCTACG others(29): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(66): Show |
a0001 | a0001c0001a0001c0002a0001c0015 | a0001c0001t0001a0001c0002t0002a0001c0015t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(20): Show |
69 | 406 | 0.1700 | -36 | c.*11 others(47): Show |
GCGR | ENSG00000215644.10 | transcript | ENST00000400723.8 | protein_coding | 794 | chr17 | TogoVar | |||||||
GCNT2_chr6_10516351_10634368 | 10582303 | TTAATATA others(29): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02109.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0029 others(14): Show |
17 | 321 | 0.0530 | -36 | c.926 others(55): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10550809_10634368 | 10582303 | TTAATATA others(29): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02109.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0096 a0001c0001t0001g0184 a0001c0001t0001g0266 others(14): Show |
17 | 341 | 0.0499 | -36 | c.919 others(55): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT3_chr15_59606783_59627723 | 59610177 | GCCTGCCT others(29): Show |
G | upstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0002 | 1 | 346 | 0.0029 | -36 | c.-20 others(47): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 1605 | chr15 | TogoVar | |||||||
GCNT3_chr15_59606783_59627723 | 59610181 | GCCTGCCT others(29): Show |
G | upstream_gene_variant | MODIFIER | NA18951.hp1 NA19081.hp2 NA19084.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0016 |
4 | 423 | 0.0095 | -36 | c.-20 others(47): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 1601 | chr15 | TogoVar | |||||||
GCNT4_chr5_75020346_75057558 | 75034963 | CAGGGACA others(29): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01243.hp1 HG02280.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0021a0002c0002t0035a0002c0002t0036others(1): Show | a0002c0002t0021g0250 a0002c0002t0035g0182 a0002c0002t0035g0183 others(3): Show |
6 | 366 | 0.0164 | -36 | c.-1- others(51): Show |
GCNT4 | ENSG00000176928.7 | transcript | ENST00000652361.2 | protein_coding | 3/3 | chr5 | TogoVar | |||||||
GEMIN6_chr2_38773210_38790002 | 38773781 | CTCTTTCT others(29): Show |
C | upstream_gene_variant | MODIFIER | NA18998.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 148 | 0.0068 | -36 | c.-45 others(47): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 4428 | chr2 | TogoVar | |||||||
GFRA1_chr10_116051925_116278206 | 116064058 | GATCATCA others(29): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG01109.hp2 others(59): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0041 a0001c0001t0001g0063 a0001c0001t0001g0077 others(59): Show |
62 | 212 | 0.2925 | -36 | c.*30 others(45): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 11/11 | 304 | chr10 | TogoVar | ||||||
GFY_chr19_49420388_49433987 | 49429163 | GGAGGAGG others(29): Show |
G | downstream_gene_variant | MODIFIER | HG02129.hp1 HG03017.hp1 HG03491.hp1 others(15): Show |
a0004a0008 | a0004c0004a0008c0011 | a0004c0004t0002a0008c0011t0002 | a0004c0004t0002g0004 a0004c0004t0002g0018 a0004c0004t0002g0026 others(2): Show |
18 | 448 | 0.0402 | -36 | c.*34 others(45): Show |
GFY | ENSG00000261949.7 | transcript | ENST00000610896.3 | protein_coding | 177 | chr19 | TogoVar | |||||||
GGT6_chr17_4551927_4565577 | 4564645 | TTTTCTTT others(29): Show |
T | upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 130 | 0.0077 | -36 | c.-41 others(47): Show |
GGT6 | ENSG00000167741.11 | transcript | ENST00000381550.8 | protein_coding | 4069 | chr17 | TogoVar | |||||||
GH2_chr17_63875215_63886944 | 63875552 | TTTTCTTT others(29): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0015 others(1): Show |
52 | 277 | 0.1877 | -36 | c.*47 others(47): Show |
GH2 | ENSG00000136487.18 | transcript | ENST00000423893.7 | protein_coding | 4662 | chr17 | TogoVar | |||||||
GH2_chr17_63875215_63886944 | 63875577 | TTTCTTTC others(29): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(166): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(2): Show |
169 | 424 | 0.3986 | -36 | c.*47 others(47): Show |
GH2 | ENSG00000136487.18 | transcript | ENST00000423893.7 | protein_coding | 4637 | chr17 | TogoVar | |||||||
GHR_chr5_42418439_42726878 | 42534274 | ATATGTAT others(29): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG01257.hp2 others(29): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0012others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(9): Show | a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0035 others(29): Show |
32 | 193 | 0.1658 | -36 | c.-11 others(55): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42579074 | TATAGATA others(29): Show |
T | intron_variant | MODIFIER | HG03225.hp1 HG03540.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0003c0006t0009 | a0001c0001t0002g0156 a0003c0006t0009g0208 |
2 | 119 | 0.0168 | -36 | c.70+ others(53): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GIGYF1_chr7_100674507_100699250 | 100694312 | ACCGCCGC others(29): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(50): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(18): Show | a0001c0001t0001g0003 a0001c0001t0003g0004 a0001c0001t0003g0011 others(30): Show |
53 | 57 | 0.9298 | -36 | c.-13 others(47): Show |
GIGYF1 | ENSG00000146830.11 | transcript | ENST00000678049.1 | protein_coding | 63 | chr7 | TogoVar | |||||||
GIGYF2_chr2_232692331_232865605 | 232836295 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | HG02886.hp1 NA18957.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0005 | a0001c0001t0004g0076 a0001c0001t0004g0078 a0001c0002t0005g0193 |
3 | 332 | 0.0090 | -36 | c.276 others(55): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIMD1_chr4_106352392_106373778 | 106365812 | AATTGTTA others(29): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01256.hp1 HG01952.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0043 a0002c0003t0002g0075 a0002c0003t0002g0093 others(3): Show |
7 | 450 | 0.0156 | -36 | c.393 others(53): Show |
GIMD1 | ENSG00000250298.6 | transcript | ENST00000638719.4 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
GINM1_chr6_149561375_149596748 | 149570134 | TTTTATAT others(29): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 334 | 0.0030 | -36 | c.121 others(53): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149570136 | TTATATAT others(29): Show |
T | intron_variant | MODIFIER | HG01884.hp2 NA18953.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0161 a0001c0001t0006g0066 |
2 | 91 | 0.0220 | -36 | c.121 others(53): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GIPC2_chr1_78040966_78143444 | 78083965 | TAGTCAAG others(29): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00738.hp2 others(19): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 others(19): Show |
22 | 330 | 0.0667 | -36 | c.426 others(53): Show |
GIPC2 | ENSG00000137960.6 | transcript | ENST00000370759.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GIPC3_chr19_3580478_3598541 | 3590671 | GAACTCAG others(29): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0073 | 1 | 428 | 0.0023 | -36 | c.*50 others(45): Show |
GIPC3 | ENSG00000179855.9 | transcript | ENST00000644452.3 | protein_coding | 6/6 | 504 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GK_chrX_30648423_30736462 | 30664089 | TATCTATA others(29): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp1 HG01168.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0017 | a0001c0002t0006g0185 a0001c0002t0006g0186 a0001c0002t0006g0187 others(1): Show |
4 | 275 | 0.0145 | -36 | c.79- others(51): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar |