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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALNT15_chr3_16169680_16235165 | 16232212 | ACATTCCT others(25): Show |
A | downstream_gene_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0137 | 1 | 388 | 0.0026 | -32 | c.*47 others(43): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2048 | chr3 | TogoVar | ||||||
GALNT15_chr3_16169680_16235165 | 16232484 | ATATATAT others(25): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02630.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0009others(1): Show | a0001c0001t0023a0001c0007t0008a0003c0009t0051others(1): Show | a0001c0001t0023g0170a0001c0001t0023g0268a0001c0007t0008g0180others(7): Show | 10 | 388 | 0.0258 | -32 | c.*49 others(43): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2320 | chr3 | TogoVar | ||||||
GALNT16_chr14_69255158_69359466 | 69322970 | GTGTGTGT others(25): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00738.hp1 others(34): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0070others(33): Show | 37 | 306 | 0.1209 | -32 | c.336 others(49): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GALNT16_chr14_69255158_69359466 | 69359195 | GGAACCAC others(25): Show |
G | downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0023 | 1 | 306 | 0.0033 | -32 | c.*70 others(43): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 4730 | chr14 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71657874 | ATGGATGG others(25): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG02040.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0002g0019a0001c0001t0006g0056a0001c0001t0006g0066others(4): Show | 7 | 76 | 0.0921 | -32 | c.108 others(51): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71701811 | ATATACAC others(25): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG01106.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011a0001c0001t0012 | a0001c0001t0006g0064a0001c0001t0011g0040a0001c0001t0012g0012 | 3 | 76 | 0.0395 | -32 | c.150 others(51): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT7_chr4_173163811_173328967 | 173184563 | GGCTCGGC others(25): Show |
G | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0179 | 1 | 266 | 0.0038 | -32 | c.126 others(51): Show |
GALNT7 | ENSG00000109586.12 | transcript | ENST00000265000.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132303382 | GGGGCACA others(25): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp1 HG03225.hp1 |
a0001 | a0001c0016a0001c0017 | a0001c0016t0001a0001c0017t0001 | a0001c0016t0001g0054a0001c0016t0001g0147a0001c0017t0001g0148 | 3 | 183 | 0.0164 | -32 | c.239 others(51): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132303510 | TGGGCACA others(25): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0078a0001c0006t0001g0142 | 2 | 183 | 0.0109 | -32 | c.239 others(51): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132303734 | CAGACACA others(25): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0011a0001c0001t0001g0040a0001c0001t0001g0042others(26): Show | 29 | 183 | 0.1585 | -32 | c.239 others(51): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132304073 | GCACAGCC others(25): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp1 HG03225.hp1 |
a0001 | a0001c0016a0001c0017 | a0001c0016t0001a0001c0017t0001 | a0001c0016t0001g0054a0001c0016t0001g0147a0001c0017t0001g0148 | 3 | 183 | 0.0164 | -32 | c.239 others(51): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132304574 | CCCTCGCC others(25): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0025 | a0001c0025t0012 | a0001c0025t0012g0048 | 1 | 183 | 0.0055 | -32 | c.239 others(51): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132304694 | CAGACACA others(25): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02080.hp1 |
a0001 | a0001c0008a0001c0025 | a0001c0008t0002a0001c0025t0012 | a0001c0008t0002g0176a0001c0025t0012g0048 | 2 | 183 | 0.0109 | -32 | c.239 others(51): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132304713 | GCACAGCC others(25): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp2 HG01106.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(9): Show | a0001c0001t0001g0033a0001c0001t0001g0072a0001c0001t0001g0150others(26): Show | 29 | 183 | 0.1585 | -32 | c.239 others(51): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132304750 | GCCTCGCC others(25): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG02280.hp1 HG02698.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0059a0001c0002t0001g0068a0001c0002t0001g0151others(7): Show | 10 | 183 | 0.0546 | -32 | c.239 others(51): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132305325 | GCCCTCAC others(25): Show |
G | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 183 | 0.0055 | -32 | c.239 others(51): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GALNTL5_chr7_151951446_152024929 | 151981559 | TTCCTTCC others(25): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00642.hp1 others(34): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0019others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0022a0001c0001t0001g0040a0001c0001t0001g0256others(34): Show | 37 | 384 | 0.0964 | -32 | c.369 others(49): Show |
GALNTL5 | ENSG00000106648.15 | transcript | ENST00000392800.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNTL5_chr7_151951446_152024929 | 151981575 | TTCCTTCC others(25): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01106.hp1 HG01884.hp1 others(10): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0005 | a0001c0001t0001a0001c0001t0002a0004c0004t0002others(1): Show | a0001c0001t0001g0093a0001c0001t0001g0097a0001c0001t0002g0328others(10): Show | 13 | 384 | 0.0339 | -32 | c.369 others(49): Show |
GALNTL5 | ENSG00000106648.15 | transcript | ENST00000392800.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172138495 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 40 | 0.0250 | -32 | c.139 others(51): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172405423 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0027 | 1 | 40 | 0.0250 | -32 | c.553 others(51): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172530943 | GTTATAAG others(25): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02015.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0011a0001c0001t0001g0023a0001c0001t0001g0028others(24): Show | 27 | 40 | 0.6750 | -32 | c.553 others(53): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172759799 | CTTTTTTT others(25): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02735.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0002g0035others(1): Show | 4 | 40 | 0.1000 | -32 | c.554 others(51): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GANAB_chr11_62619829_62651613 | 62638580 | GAGGAAGG others(25): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG02257.hp2 HG02723.hp1 others(2): Show |
a0001a0010 | a0001c0001a0001c0024a0010c0022 | a0001c0001t0001a0001c0024t0006a0010c0022t0001 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0142others(2): Show | 5 | 308 | 0.0162 | -32 | c.380 others(47): Show |
GANAB | ENSG00000089597.18 | transcript | ENST00000356638.8 | protein_coding | 4/23 | chr11 | TogoVar | ||||||
GAN_chr16_81309962_81395809 | 81376479 | GTGTGTGT others(25): Show |
G | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0175 | 1 | 384 | 0.0026 | -32 | c.150 others(49): Show |
GAN | ENSG00000261609.8 | transcript | ENST00000648994.2 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
GAP43_chr3_115618510_115726483 | 115716717 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 352 | 0.0028 | -32 | c.629 others(49): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GAPVD1_chr9_125256826_125372207 | 125293850 | TTTTATAT others(25): Show |
T | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 340 | 0.0029 | -32 | c.-14 others(51): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GAPVD1_chr9_125256826_125372207 | 125293852 | TTATATAT others(25): Show |
T | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0120 | 1 | 340 | 0.0029 | -32 | c.-14 others(51): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GARRE1_chr19_34249554_34360566 | 34290874 | CTTTTTTT others(25): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG02896.hp1 HG02976.hp2 others(6): Show |
a0001 | a0001c0004a0001c0013 | a0001c0004t0001a0001c0004t0016a0001c0013t0001 | a0001c0004t0001g0081a0001c0004t0001g0136a0001c0004t0001g0137others(6): Show | 9 | 326 | 0.0276 | -32 | c.-79 others(51): Show |
GARRE1 | ENSG00000166398.14 | transcript | ENST00000299505.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GAS2_chr11_22661611_22818001 | 22686553 | TAAAAAAA others(25): Show |
T | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 | 1 | 272 | 0.0037 | -32 | c.267 others(47): Show |
GAS2 | ENSG00000148935.12 | transcript | ENST00000454584.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GATA5_chr20_62458497_62480995 | 62476877 | TTTTCTTT others(25): Show |
T | upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0209 | 1 | 382 | 0.0026 | -32 | c.-10 others(42): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 883 | chr20 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62477058 | TTTCCTTC others(25): Show |
T | upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0011 | a0001c0011t0027 | a0001c0011t0027g0062 | 1 | 382 | 0.0026 | -32 | c.-11 others(43): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1064 | chr20 | TogoVar | ||||||
GATAD2A_chr19_19400675_19513932 | 19440942 | CCCTTTCC others(25): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp2 others(73): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0009others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(15): Show | a0001c0001t0002g0009a0001c0001t0002g0041a0001c0001t0002g0042others(73): Show | 76 | 298 | 0.2550 | -32 | c.-6- others(49): Show |
GATAD2A | ENSG00000167491.18 | transcript | ENST00000683918.1 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GATM_chr15_45356124_45383544 | 45358188 | TGAGCAGG others(25): Show |
T | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0006 | 2 | 296 | 0.0068 | -32 | c.*38 others(43): Show |
GATM | ENSG00000171766.17 | transcript | ENST00000396659.8 | protein_coding | 2935 | chr15 | TogoVar | ||||||
GBF1_chr10_102240532_102387896 | 102377318 | AATTTATT others(25): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00558.hp1 others(88): Show |
a0001a0003a0008others(2): Show | a0001c0001a0001c0013a0003c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0013t0002others(4): Show | a0001c0001t0001g0213a0001c0001t0001g0214a0001c0001t0002g0002others(88): Show | 91 | 330 | 0.2758 | -32 | c.449 others(49): Show |
GBF1 | ENSG00000107862.7 | transcript | ENST00000369983.5 | protein_coding | 33/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GCNT3_chr15_59606783_59627723 | 59610181 | GCCTGCCT others(25): Show |
G | upstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | -32 | c.-20 others(43): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 1601 | chr15 | TogoVar | ||||||
GEN1_chr2_17749138_17793946 | 17778371 | CACACACA others(25): Show |
C | intron_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0002 | a0002c0002t0045 | a0002c0002t0045g0084 | 1 | 318 | 0.0031 | -32 | c.126 others(49): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GET4_chr7_871554_901436 | 893347 | TTGCAGGT others(25): Show |
T | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0103 | 1 | 384 | 0.0026 | -32 | c.747 others(47): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GET4_chr7_871554_901436 | 893478 | GTGCAGGT others(25): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00558.hp1 others(47): Show |
a0001a0003 | a0001c0002a0001c0016a0003c0018 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0002t0001g0025a0001c0002t0001g0027a0001c0002t0001g0100others(42): Show | 50 | 384 | 0.1302 | -32 | c.747 others(47): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GET4_chr7_871554_901436 | 893503 | ATGGTGGT others(25): Show |
A | intron_variant | MODIFIER | HG02602.hp1 HG02735.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0093a0001c0002t0001g0102 | 2 | 384 | 0.0052 | -32 | c.747 others(47): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GFM2_chr5_74716206_74772117 | 74762871 | ATGAATTA others(25): Show |
A | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 372 | 0.0027 | -32 | c.63+ others(45): Show |
GFM2 | ENSG00000164347.18 | transcript | ENST00000296805.8 | protein_coding | 2/20 | chr5 | TogoVar | ||||||
GFPT2_chr5_180295698_180358336 | 180312164 | AGGGAGGC others(25): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(74): Show |
a0001a0002a0003 | a0001c0003a0001c0005a0001c0021others(3): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(8): Show | a0001c0003t0001g0065a0001c0003t0001g0078a0001c0003t0001g0085others(69): Show | 77 | 412 | 0.1869 | -32 | c.154 others(49): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 15/18 | chr5 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24605271 | AATATGTA others(25): Show |
A | intron_variant | MODIFIER | HG02165.hp2 HG02486.hp1 NA18943.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002a0002c0002t0012 | a0001c0001t0002g0299a0001c0001t0002g0316a0001c0001t0002g0330others(4): Show | 7 | 426 | 0.0164 | -32 | c.-42 others(51): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GGT1_chr22_24598193_24633996 | 24605957 | AATATATT others(25): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0096 | 1 | 426 | 0.0024 | -32 | c.-42 others(51): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | ||||||
GGT6_chr17_4551927_4565577 | 4564645 | TTTTCTTT others(25): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(317): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0016others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0030a0001c0001t0001g0052others(41): Show | 320 | 458 | 0.6987 | -32 | c.-41 others(43): Show |
GGT6 | ENSG00000167741.11 | transcript | ENST00000381550.8 | protein_coding | 4069 | chr17 | TogoVar | ||||||
GGTLC2_chr22_22639614_22652898 | 22645134 | CGCCCTCC others(25): Show |
C | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0223 | 1 | 412 | 0.0024 | -32 | c.-35 others(47): Show |
GGTLC2 | ENSG00000100121.14 | transcript | ENST00000448514.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GH2_chr17_63875215_63886944 | 63875552 | TTTTCTTT others(25): Show |
T | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG01934.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003 | 8 | 426 | 0.0188 | -32 | c.*47 others(43): Show |
GH2 | ENSG00000136487.18 | transcript | ENST00000423893.7 | protein_coding | 4662 | chr17 | TogoVar | ||||||
GH2_chr17_63875215_63886944 | 63875581 | TTTCTTTC others(25): Show |
T | downstream_gene_variant | MODIFIER | HG01255.hp1 HG01255.hp2 HG02074.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 14 | 426 | 0.0329 | -32 | c.*47 others(43): Show |
GH2 | ENSG00000136487.18 | transcript | ENST00000423893.7 | protein_coding | 4633 | chr17 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42534178 | GTATGTAT others(25): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00733.hp1 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(10): Show | a0001c0001t0002g0016a0001c0001t0002g0017a0001c0001t0002g0035others(33): Show | 36 | 210 | 0.1714 | -32 | c.-11 others(51): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GIGYF2_chr2_232692331_232865605 | 232836263 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02886.hp2 HG02976.hp1 others(3): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0006 | a0001c0003t0027a0002c0001t0002a0002c0001t0009others(1): Show | a0001c0003t0027g0172a0002c0001t0002g0027a0002c0001t0002g0028others(3): Show | 6 | 376 | 0.0160 | -32 | c.276 others(51): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIGYF2_chr2_232692331_232865605 | 232836299 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG01884.hp1 others(9): Show |
a0002a0013 | a0002c0001a0013c0019 | a0002c0001t0002a0002c0001t0004a0002c0001t0031others(1): Show | a0002c0001t0002g0117a0002c0001t0004g0014a0002c0001t0004g0015others(9): Show | 12 | 376 | 0.0319 | -32 | c.276 others(51): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |