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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GOLGA8G_chr15_28514611_28537971 | 28514844 | A | ATTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 NA18906.hp2 |
a0004a0009 | a0004c0006a0009c0013 | a0004c0006t0003a0009c0013t0003 | a0004c0006t0003g0019a0009c0013t0003g0017 | 2 | 100 | 0.0200 | 11 | c.*77 others(22): Show |
GOLGA8G | ENSG00000183629.14 | transcript | ENST00000525590.3 | protein_coding | 4766 | chr15 | TogoVar | ||||||
GOLGA8H_chr15_30599028_30622752 | 30618764 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 HG01981.hp1 HG02280.hp2 others(7): Show |
a0002a0004a0005others(1): Show | a0002c0002a0004c0004a0005c0005others(1): Show | a0002c0002t0002a0002c0002t0004a0004c0004t0018others(3): Show | a0002c0002t0002g0002a0002c0002t0004g0016a0004c0004t0018g0044others(5): Show | 10 | 387 | 0.0258 | 11 | c.*42 others(22): Show |
GOLGA8H | ENSG00000261794.2 | transcript | ENST00000566740.2 | protein_coding | 1013 | chr15 | TogoVar | ||||||
GOLGA8N_chr15_32588456_32612237 | 32594295 | G | GAGACTAT others(4): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0110 | 1 | 286 | 0.0035 | 11 | c.48+ others(24): Show |
GOLGA8N | ENSG00000232653.9 | transcript | ENST00000448387.7 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GOLGA8N_chr15_32588456_32612237 | 32598565 | G | GGTGTGTG others(4): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0036 | a0036c0040 | a0036c0040t0027 | a0036c0040t0027g0163 | 1 | 286 | 0.0035 | 11 | c.591 others(26): Show |
GOLGA8N | ENSG00000232653.9 | transcript | ENST00000448387.7 | protein_coding | 8/18 | chr15 | TogoVar | ||||||
GOLGA8N_chr15_32588456_32612237 | 32612140 | A | ACCTTATT others(4): Show |
downstream_gene_variant | MODIFIER | NA19000.hp2 | a0036 | a0036c0040 | a0036c0040t0027 | a0036c0040t0027g0163 | 1 | 286 | 0.0035 | 11 | c.*81 others(22): Show |
GOLGA8N | ENSG00000232653.9 | transcript | ENST00000448387.7 | protein_coding | 4904 | chr15 | TogoVar | ||||||
GOLGB1_chr3_121658201_121754741 | 121683053 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp2 others(25): Show |
a0001a0003a0026 | a0001c0001a0003c0004a0003c0008others(1): Show | a0001c0001t0003a0003c0004t0001a0003c0008t0001others(1): Show | a0001c0001t0003g0069a0001c0001t0003g0071a0001c0001t0003g0072others(25): Show | 28 | 370 | 0.0757 | 11 | c.869 others(30): Show |
GOLGB1 | ENSG00000173230.17 | transcript | ENST00000614479.5 | protein_coding | 14/21 | chr3 | TogoVar | ||||||
GOLGB1_chr3_121658201_121754741 | 121706733 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02145.hp1 HG02523.hp2 others(9): Show |
a0004a0024 | a0004c0005a0024c0026 | a0004c0005t0004a0024c0026t0004 | a0004c0005t0004g0015a0004c0005t0004g0016a0004c0005t0004g0025others(9): Show | 12 | 370 | 0.0324 | 11 | c.140 others(30): Show |
GOLGB1 | ENSG00000173230.17 | transcript | ENST00000614479.5 | protein_coding | 10/21 | chr3 | TogoVar | ||||||
GOLGB1_chr3_121658201_121754741 | 121727320 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0189 | 1 | 370 | 0.0027 | 11 | c.403 others(26): Show |
GOLGB1 | ENSG00000173230.17 | transcript | ENST00000614479.5 | protein_coding | 4/21 | chr3 | TogoVar | ||||||
GOLGB1_chr3_121658201_121754741 | 121727320 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0340 | 1 | 370 | 0.0027 | 11 | c.403 others(26): Show |
GOLGB1 | ENSG00000173230.17 | transcript | ENST00000614479.5 | protein_coding | 4/21 | chr3 | TogoVar | ||||||
GOLGB1_chr3_121658201_121754741 | 121727320 | A | ATATTTTT others(4): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0006 | a0006c0009 | a0006c0009t0002 | a0006c0009t0002g0264 | 1 | 370 | 0.0027 | 11 | c.403 others(26): Show |
GOLGB1 | ENSG00000173230.17 | transcript | ENST00000614479.5 | protein_coding | 4/21 | chr3 | TogoVar | ||||||
GOLGB1_chr3_121658201_121754741 | 121727321 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02132.hp2 NA19002.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0002 | a0001c0002t0001g0169a0002c0003t0002g0300a0002c0003t0002g0318 | 3 | 370 | 0.0081 | 11 | c.403 others(26): Show |
GOLGB1 | ENSG00000173230.17 | transcript | ENST00000614479.5 | protein_coding | 4/21 | chr3 | TogoVar | ||||||
GOLIM4_chr3_168003689_168100924 | 168009426 | C | CAAAAAAA others(4): Show |
3_prime_UTR_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0205 | 1 | 228 | 0.0044 | 11 | c.*84 others(20): Show |
GOLIM4 | ENSG00000173905.9 | transcript | ENST00000470487.6 | protein_coding | 16/16 | 842 | chr3 | TogoVar | |||||
GOLIM4_chr3_168003689_168100924 | 168009430 | C | CAAAAAAA others(4): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00735.hp2 others(18): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0004a0001c0001t0032a0001c0009t0004 | a0001c0001t0004g0028a0001c0001t0004g0030a0001c0001t0004g0031others(18): Show | 21 | 228 | 0.0921 | 11 | c.*82 others(20): Show |
GOLIM4 | ENSG00000173905.9 | transcript | ENST00000470487.6 | protein_coding | 16/16 | 838 | chr3 | TogoVar | |||||
GOLM1_chr9_86021146_86104558 | 86035866 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02970.hp1 HG03492.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0002a0002c0002t0003 | a0001c0001t0001g0178a0001c0001t0001g0233a0001c0004t0002g0048others(3): Show | 6 | 314 | 0.0191 | 11 | c.758 others(26): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 7/9 | chr9 | TogoVar | ||||||
GOLM2_chr15_44283719_44420758 | 44304230 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00423.hp1 HG03927.hp1 NA18953.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091a0001c0001t0001g0096a0001c0001t0001g0100others(1): Show | 4 | 150 | 0.0267 | 11 | c.327 others(30): Show |
GOLM2 | ENSG00000166734.20 | transcript | ENST00000299957.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GOLM2_chr15_44283719_44420758 | 44366296 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0117 | 1 | 150 | 0.0067 | 11 | c.803 others(30): Show |
GOLM2 | ENSG00000166734.20 | transcript | ENST00000299957.11 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GOLPH3L_chr1_150641230_150702154 | 150677696 | G | GCTCACTG others(4): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0286 | 1 | 348 | 0.0029 | 11 | c.184 others(30): Show |
GOLPH3L | ENSG00000143457.11 | transcript | ENST00000271732.8 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
GOLPH3_chr5_32119716_32179319 | 32176053 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG01074.hp2 HG01168.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0017others(29): Show | 32 | 380 | 0.0842 | 11 | c.-20 others(22): Show |
GOLPH3 | ENSG00000113384.14 | transcript | ENST00000265070.7 | protein_coding | 1735 | chr5 | TogoVar | ||||||
GOLT1A_chr1_204193163_204218988 | 204208502 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 414 | 0.0024 | 11 | c.25+ others(26): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
GON4L_chr1_155744659_155862214 | 155811754 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 | 1 | 218 | 0.0046 | 11 | c.145 others(30): Show |
GON4L | ENSG00000116580.20 | transcript | ENST00000368331.6 | protein_coding | 10/31 | chr1 | TogoVar | ||||||
GON4L_chr1_155744659_155862214 | 155824434 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0209 | 1 | 218 | 0.0046 | 11 | c.698 others(28): Show |
GON4L | ENSG00000116580.20 | transcript | ENST00000368331.6 | protein_coding | 3/31 | chr1 | TogoVar | ||||||
GOSR1_chr17_30472408_30532592 | 30480722 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0027others(34): Show | 46 | 306 | 0.1503 | 11 | c.32- others(24): Show |
GOSR1 | ENSG00000108587.16 | transcript | ENST00000451249.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GOT1L1_chr8_37929281_37945124 | 37939431 | A | AAAAAAAT others(4): Show |
intron_variant | MODIFIER | HG04204.hp1 NA18951.hp2 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0118 | 3 | 434 | 0.0069 | 11 | c.115 others(26): Show |
GOT1L1 | ENSG00000169154.7 | transcript | ENST00000307599.5 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
GOT1L1_chr8_37929281_37945124 | 37939431 | A | AAATATAT others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 434 | 0.0023 | 11 | c.115 others(26): Show |
GOT1L1 | ENSG00000169154.7 | transcript | ENST00000307599.5 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
GOT1L1_chr8_37929281_37945124 | 37939431 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 434 | 0.0023 | 11 | c.115 others(26): Show |
GOT1L1 | ENSG00000169154.7 | transcript | ENST00000307599.5 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
GP1BB_chr22_19718539_19729771 | 19725843 | T | TCGGGGCG others(4): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(311): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(12): Show | 314 | 410 | 0.7659 | 11 | c.*13 others(22): Show |
GP1BB | ENSG00000203618.6 | transcript | ENST00000366425.4 | protein_coding | 1073 | chr22 | TogoVar | ||||||
GPALPP1_chr13_44984538_45035305 | 44995169 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 348 | 0.0029 | 11 | c.88+ others(26): Show |
GPALPP1 | ENSG00000133114.18 | transcript | ENST00000379151.9 | protein_coding | 1/7 | chr13 | TogoVar | ||||||
GPALPP1_chr13_44984538_45035305 | 44995203 | C | CACACACA others(4): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 348 | 0.0029 | 11 | c.88+ others(26): Show |
GPALPP1 | ENSG00000133114.18 | transcript | ENST00000379151.9 | protein_coding | 1/7 | chr13 | TogoVar | ||||||
GPAM_chr10_112144865_112188765 | 112174101 | G | GGTGACAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
a0001a0003a0005others(3): Show | a0001c0001a0003c0003a0005c0006others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(107): Show | 258 | 378 | 0.6825 | 11 | c.414 others(26): Show |
GPAM | ENSG00000119927.14 | transcript | ENST00000348367.9 | protein_coding | 6/21 | chr10 | TogoVar | ||||||
GPAT3_chr4_83531108_83610875 | 83562199 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0332 | 1 | 334 | 0.0030 | 11 | c.208 others(30): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | chr4 | TogoVar | ||||||
GPAT3_chr4_83531108_83610875 | 83578922 | T | TTTCTTTC others(4): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00597.hp1 others(55): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0058a0001c0001t0001g0061a0001c0001t0001g0153others(55): Show | 58 | 334 | 0.1737 | 11 | c.209 others(28): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GPAT3_chr4_83531108_83610875 | 83578943 | T | TTTCTTTC others(4): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0104a0001c0001t0001g0105 | 3 | 334 | 0.0090 | 11 | c.209 others(28): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GPAT3_chr4_83531108_83610875 | 83578948 | T | TTTCTTTC others(4): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01175.hp2 HG01884.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0067a0001c0001t0001g0096a0001c0001t0001g0102others(9): Show | 12 | 334 | 0.0359 | 11 | c.209 others(28): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GPAT3_chr4_83531108_83610875 | 83583667 | G | GAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02886.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0213a0001c0001t0002g0214a0001c0001t0006g0001others(1): Show | 4 | 334 | 0.0120 | 11 | c.479 others(28): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GPATCH11_chr2_37079518_37104244 | 37082086 | T | TTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 NA18984.hp2 NA19004.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0051others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0047others(3): Show | 7 | 434 | 0.0161 | 11 | c.-24 others(22): Show |
GPATCH11 | ENSG00000152133.17 | transcript | ENST00000674370.2 | protein_coding | 2431 | chr2 | TogoVar | ||||||
GPATCH1_chr19_33076181_33135542 | 33076582 | A | AATAAGAT others(4): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0056 | 1 | 380 | 0.0026 | 11 | c.-46 others(22): Show |
GPATCH1 | ENSG00000076650.7 | transcript | ENST00000170564.7 | protein_coding | 4598 | chr19 | TogoVar | ||||||
GPATCH1_chr19_33076181_33135542 | 33104349 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(169): Show |
a0001a0005a0006others(3): Show | a0001c0001a0001c0003a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0162a0001c0001t0002g0004a0001c0001t0002g0014others(163): Show | 172 | 380 | 0.4526 | 11 | c.108 others(30): Show |
GPATCH1 | ENSG00000076650.7 | transcript | ENST00000170564.7 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GPATCH1_chr19_33076181_33135542 | 33104349 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02896.hp1 HG02897.hp2 others(2): Show |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0005a0005c0008t0001g0326a0005c0008t0001g0328 | 5 | 380 | 0.0132 | 11 | c.108 others(30): Show |
GPATCH1 | ENSG00000076650.7 | transcript | ENST00000170564.7 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GPATCH1_chr19_33076181_33135542 | 33133196 | T | TAAATAAT others(4): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0082 | 1 | 380 | 0.0026 | 11 | c.*30 others(22): Show |
GPATCH1 | ENSG00000076650.7 | transcript | ENST00000170564.7 | protein_coding | 2655 | chr19 | TogoVar | ||||||
GPATCH2_chr1_217421992_217636090 | 217524876 | G | GGGGGAGG others(4): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131a0001c0001t0002g0132 | 2 | 188 | 0.0106 | 11 | c.109 others(30): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
GPATCH8_chr17_44390281_44508406 | 44454761 | A | ACCTTAGA others(4): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 326 | 0.0031 | 11 | c.193 others(28): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 3/7 | chr17 | TogoVar | ||||||
GPATCH8_chr17_44390281_44508406 | 44483154 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02083.hp1 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0086a0001c0001t0001g0137 | 3 | 326 | 0.0092 | 11 | c.46- others(26): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
GPATCH8_chr17_44390281_44508406 | 44483176 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 326 | 0.0031 | 11 | c.46- others(26): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
GPBP1L1_chr1_45622304_45691533 | 45663050 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00642.hp1 others(76): Show |
a0001a0003a0004 | a0001c0002a0001c0003a0001c0008others(2): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0011others(8): Show | a0001c0002t0002g0011a0001c0002t0002g0013a0001c0002t0002g0014others(76): Show | 79 | 292 | 0.2706 | 11 | c.-10 others(32): Show |
GPBP1L1 | ENSG00000159592.11 | transcript | ENST00000355105.8 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
GPC3_chrX_133530745_133990594 | 133643831 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03471.hp1 HG06807.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0017a0001c0002t0002g0061a0001c0002t0002g0129 | 3 | 152 | 0.0197 | 11 | c.141 others(32): Show |
GPC3 | ENSG00000147257.16 | transcript | ENST00000370818.8 | protein_coding | 6/7 | chrX | TogoVar | ||||||
GPC3_chrX_133530745_133990594 | 133661633 | T | TCTCTCTC others(4): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0030 | 2 | 152 | 0.0132 | 11 | c.141 others(26): Show |
GPC3 | ENSG00000147257.16 | transcript | ENST00000370818.8 | protein_coding | 6/7 | chrX | TogoVar | ||||||
GPC3_chrX_133530745_133990594 | 133841215 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03130.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0019a0001c0002t0002g0063a0001c0002t0002g0099 | 3 | 152 | 0.0197 | 11 | c.338 others(30): Show |
GPC3 | ENSG00000147257.16 | transcript | ENST00000370818.8 | protein_coding | 2/7 | chrX | TogoVar | ||||||
GPC3_chrX_133530745_133990594 | 133889006 | A | AATCTCAC others(4): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 152 | 0.0066 | 11 | c.337 others(30): Show |
GPC3 | ENSG00000147257.16 | transcript | ENST00000370818.8 | protein_coding | 2/7 | chrX | TogoVar | ||||||
GPC4_chrX_133295103_133420489 | 133404546 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00558.hp1 NA19043.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0022 | a0002c0002t0002g0133a0002c0002t0022g0118 | 2 | 221 | 0.0091 | 11 | c.160 others(30): Show |
GPC4 | ENSG00000076716.9 | transcript | ENST00000370828.4 | protein_coding | 1/8 | chrX | TogoVar | ||||||
GPC4_chrX_133295103_133420489 | 133404866 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0105 | 1 | 221 | 0.0045 | 11 | c.160 others(28): Show |
GPC4 | ENSG00000076716.9 | transcript | ENST00000370828.4 | protein_coding | 1/8 | chrX | TogoVar |