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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GFOD2_chr16_67669536_67724316 | 67692311 | G | GTGGCTCA | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG00741.hp2 others(39): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(1): Show | a0001c0001t0002g0008a0001c0001t0002g0010a0001c0001t0002g0011others(38): Show | 42 | 186 | 0.2258 | 7 | c.-87 others(24): Show |
GFOD2 | ENSG00000141098.13 | transcript | ENST00000268797.12 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
GFRA1_chr10_116051925_116278206 | 116065012 | C | CTCTGGCT | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0090a0001c0001t0130 | a0001c0001t0090g0007a0001c0001t0130g0086 | 2 | 214 | 0.0094 | 7 | c.125 others(24): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 10/10 | chr10 | TogoVar | ||||||
GFRA1_chr10_116051925_116278206 | 116134974 | A | ATGTAATG | intron_variant | MODIFIER | HG00738.hp2 HG02055.hp2 HG02630.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0012a0002c0003others(1): Show | a0001c0001t0059a0001c0001t0105a0001c0012t0009others(3): Show | a0001c0001t0059g0146a0001c0001t0105g0042a0001c0012t0009g0168others(3): Show | 6 | 214 | 0.0280 | 7 | c.434 others(24): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21714246 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(97): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0011others(97): Show | 100 | 322 | 0.3106 | 7 | c.795 others(24): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21789029 | C | CGGCGCGG | upstream_gene_variant | MODIFIER | HG02602.hp1 HG02602.hp2 HG03688.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0001c0001t0034a0002c0002t0002 | a0001c0001t0007g0119a0001c0001t0034g0104a0002c0002t0002g0131 | 3 | 322 | 0.0093 | 7 | c.-87 others(16): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 155 | chr8 | TogoVar | ||||||
GFRA3_chr5_138247380_138279621 | 138268284 | G | GAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(199): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(186): Show | 202 | 376 | 0.5372 | 7 | c.92- others(22): Show |
GFRA3 | ENSG00000146013.11 | transcript | ENST00000274721.8 | protein_coding | 1/7 | chr5 | TogoVar | ||||||
GGA3_chr17_75231599_75266606 | 75236306 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01243.hp1 HG02055.hp2 others(8): Show |
a0001 | a0001c0002a0001c0004a0001c0014 | a0001c0002t0001a0001c0002t0010a0001c0004t0001others(1): Show | a0001c0002t0001g0007a0001c0002t0001g0037a0001c0002t0001g0047others(8): Show | 11 | 364 | 0.0302 | 7 | c.*19 others(18): Show |
GGA3 | ENSG00000125447.18 | transcript | ENST00000537686.6 | protein_coding | 292 | chr17 | TogoVar | ||||||
GGA3_chr17_75231599_75266606 | 75237937 | C | CCCCCACT | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00597.hp1 others(25): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0008a0001c0001t0012others(2): Show | a0001c0001t0002g0006a0001c0001t0002g0017a0001c0001t0002g0022others(17): Show | 28 | 364 | 0.0769 | 7 | c.*34 others(16): Show |
GGA3 | ENSG00000125447.18 | transcript | ENST00000537686.6 | protein_coding | 17/17 | 341 | chr17 | TogoVar | |||||
GGACT_chr13_100525180_100593789 | 100543197 | C | CTTTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG02572.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0013 | a0001c0001t0001g0073a0001c0001t0001g0098a0001c0001t0001g0190others(3): Show | 6 | 376 | 0.0160 | 7 | c.-10 others(26): Show |
GGACT | ENSG00000134864.11 | transcript | ENST00000683975.1 | protein_coding | 2/2 | chr13 | TogoVar | ||||||
GGH_chr8_63010079_63043806 | 63015827 | C | CCAAGTGG | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp2 others(138): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0013others(57): Show | 141 | 426 | 0.3310 | 7 | c.836 others(22): Show |
GGH | ENSG00000137563.13 | transcript | ENST00000260118.7 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24605036 | A | ATATATAT | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01081.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0002a0002c0002t0002a0002c0005t0012 | a0001c0001t0002g0292a0001c0001t0002g0293a0002c0002t0002g0294others(4): Show | 7 | 426 | 0.0164 | 7 | c.-42 others(26): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24605192 | A | ATATGTAT | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02145.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0015a0002c0002t0004 | a0001c0001t0002g0407a0001c0001t0015g0037a0002c0002t0004g0002others(8): Show | 12 | 426 | 0.0282 | 7 | c.-42 others(26): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GGT1_chr22_24598193_24633996 | 24605822 | T | TAATATTA | intron_variant | MODIFIER | HG01071.hp2 HG01167.hp1 HG01261.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0340a0002c0002t0002g0030a0002c0002t0002g0317others(8): Show | 11 | 426 | 0.0258 | 7 | c.-42 others(26): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | ||||||
GGTA1_chr9_121450040_121504844 | 121472443 | C | CCATAAAA | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01261.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0218a0001c0001t0001g0219a0001c0001t0001g0220others(8): Show | 11 | 338 | 0.0325 | 7 | c.-9- others(22): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
GGTLC2_chr22_22639614_22652898 | 22644882 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0013others(1): Show | a0001c0001t0003a0001c0001t0010a0001c0004t0001others(4): Show | a0001c0001t0003g0066a0001c0001t0010g0067a0001c0004t0001g0017others(17): Show | 22 | 412 | 0.0534 | 7 | c.-35 others(22): Show |
GGTLC2 | ENSG00000100121.14 | transcript | ENST00000448514.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GHRHR_chr7_30958953_30984528 | 30980185 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG00735.hp2 others(39): Show |
a0001a0004 | a0001c0001a0004c0005a0004c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0011others(28): Show | 42 | 422 | 0.0995 | 7 | c.*94 others(16): Show |
GHRHR | ENSG00000106128.19 | transcript | ENST00000326139.7 | protein_coding | 658 | chr7 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42425176 | C | CTGCATGG | intron_variant | MODIFIER | HG01361.hp2 HG02055.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0015 | a0001c0001t0013g0039a0001c0001t0013g0040a0001c0001t0013g0065others(3): Show | 6 | 210 | 0.0286 | 7 | c.-12 others(24): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42576046 | T | TAAAATAA | intron_variant | MODIFIER | HG01167.hp1 HG02055.hp1 HG02258.hp1 others(4): Show |
a0001a0003a0006 | a0001c0001a0003c0005a0006c0010 | a0001c0001t0005a0001c0001t0020a0003c0005t0002others(1): Show | a0001c0001t0005g0080a0001c0001t0005g0082a0001c0001t0020g0045others(4): Show | 7 | 210 | 0.0333 | 7 | c.70+ others(24): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42583013 | C | CATAGCCT | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01243.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0006 | a0001c0001t0005g0079a0001c0001t0005g0101a0001c0001t0005g0131others(2): Show | 5 | 210 | 0.0238 | 7 | c.70+ others(24): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42617640 | C | CACATTCG | intron_variant | MODIFIER | HG00733.hp2 HG01358.hp2 HG01952.hp1 others(5): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0001a0002c0002t0006a0005c0007t0017 | a0002c0002t0001g0019a0002c0002t0001g0020a0002c0002t0001g0037others(5): Show | 8 | 210 | 0.0381 | 7 | c.71- others(24): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GIGYF1_chr7_100674507_100699250 | 100691506 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(270): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(70): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(141): Show | 273 | 398 | 0.6859 | 7 | c.-10 others(28): Show |
GIGYF1 | ENSG00000146830.11 | transcript | ENST00000678049.1 | protein_coding | 1/26 | chr7 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232704856 | A | ATTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00741.hp2 others(6): Show |
a0001a0004 | a0001c0005a0004c0011 | a0001c0005t0001a0001c0005t0008a0001c0005t0022others(1): Show | a0001c0005t0001g0225a0001c0005t0001g0226a0001c0005t0001g0227others(6): Show | 9 | 376 | 0.0239 | 7 | c.-44 others(24): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIMAP4_chr7_150562390_150578953 | 150574089 | T | TCCCCTTC | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp1 others(160): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(16): Show | 163 | 454 | 0.3590 | 7 | c.*10 others(18): Show |
GIMAP4 | ENSG00000133574.10 | transcript | ENST00000255945.4 | protein_coding | 137 | chr7 | TogoVar | ||||||
GINS2_chr16_85671198_85693954 | 85671439 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01074.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0012a0001c0001t0017others(3): Show | a0001c0001t0003g0012a0001c0001t0003g0033a0001c0001t0003g0107others(9): Show | 14 | 470 | 0.0298 | 7 | c.*67 others(18): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 4758 | chr16 | TogoVar | ||||||
GIPC2_chr1_78040966_78143444 | 78118247 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(74): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0001c0011others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0002g0003a0001c0001t0002g0013a0001c0001t0002g0064others(74): Show | 77 | 332 | 0.2319 | 7 | c.608 others(24): Show |
GIPC2 | ENSG00000137960.6 | transcript | ENST00000370759.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GIPC3_chr19_3580478_3598541 | 3588640 | C | CAAAAAAA | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006a0001c0002t0013others(3): Show | a0001c0002t0003g0017a0001c0002t0006g0017a0001c0002t0013g0090others(3): Show | 7 | 430 | 0.0163 | 7 | c.593 others(22): Show |
GIPC3 | ENSG00000179855.9 | transcript | ENST00000644452.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GIPR_chr19_45663221_45688722 | 45666034 | G | GGAGGGGA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(89): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(53): Show | 92 | 416 | 0.2212 | 7 | c.-23 others(18): Show |
GIPR | ENSG00000010310.9 | transcript | ENST00000590918.6 | protein_coding | 2186 | chr19 | TogoVar | ||||||
GIP_chr17_48953554_48973596 | 48963841 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(112): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0025a0001c0001t0001g0057a0001c0001t0001g0058others(54): Show | 115 | 406 | 0.2833 | 7 | c.257 others(22): Show |
GIP | ENSG00000159224.4 | transcript | ENST00000357424.2 | protein_coding | 3/5 | chr17 | TogoVar | ||||||
GIP_chr17_48953554_48973596 | 48963862 | A | AAAAAAAG | intron_variant | MODIFIER | HG01255.hp2 HG02109.hp2 HG02293.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0052a0001c0001t0001g0059others(3): Show | 7 | 406 | 0.0172 | 7 | c.257 others(22): Show |
GIP | ENSG00000159224.4 | transcript | ENST00000357424.2 | protein_coding | 3/5 | chr17 | TogoVar | ||||||
GIT1_chr17_29568475_29594648 | 29568662 | G | GGGGGCGC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(61): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0097a0001c0001t0001g0099a0001c0001t0002g0003others(28): Show | 64 | 400 | 0.1600 | 7 | c.*60 others(18): Show |
GIT1 | ENSG00000108262.16 | transcript | ENST00000225394.8 | protein_coding | 4812 | chr17 | TogoVar | ||||||
GJA10_chr6_89889469_89901120 | 89899199 | G | GTAGAGAC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(248): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(4): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0002c0002t0002g0000others(4): Show | 251 | 386 | 0.6503 | 7 | c.*30 others(18): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 3080 | chr6 | TogoVar | ||||||
GJA3_chr13_20133255_20166052 | 20164576 | A | AAAAAAAC | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01109.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0004a0001c0001t0030a0001c0002t0006others(2): Show | a0001c0001t0004g0085a0001c0001t0004g0115a0001c0001t0004g0122others(4): Show | 9 | 392 | 0.0230 | 7 | c.-37 others(18): Show |
GJA3 | ENSG00000121743.4 | transcript | ENST00000241125.4 | protein_coding | 3525 | chr13 | TogoVar | ||||||
GJA9_chr1_38869069_38886587 | 38880402 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG01074.hp1 others(25): Show |
a0002a0005 | a0002c0002a0005c0008 | a0002c0002t0001a0005c0008t0001 | a0002c0002t0001g0009a0002c0002t0001g0014a0002c0002t0001g0041others(7): Show | 28 | 444 | 0.0631 | 7 | c.-96 others(24): Show |
GJA9 | ENSG00000131233.10 | transcript | ENST00000357771.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
GJA9_chr1_38869069_38886587 | 38883288 | A | AAAAAAAT | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG01361.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0006a0002c0002t0001g0008a0002c0002t0001g0009others(7): Show | 13 | 444 | 0.0293 | 7 | c.-19 others(18): Show |
GJA9 | ENSG00000131233.10 | transcript | ENST00000357771.5 | protein_coding | 1702 | chr1 | TogoVar | ||||||
GJA9_chr1_38869069_38886587 | 38883288 | A | AAAAATAT | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00738.hp1 HG01109.hp2 others(12): Show |
a0002a0011 | a0002c0002a0011c0010 | a0002c0002t0001a0011c0010t0001 | a0002c0002t0001g0006a0002c0002t0001g0008a0002c0002t0001g0009others(8): Show | 15 | 444 | 0.0338 | 7 | c.-19 others(18): Show |
GJA9 | ENSG00000131233.10 | transcript | ENST00000357771.5 | protein_coding | 1702 | chr1 | TogoVar | ||||||
GJD2_chr15_34746032_34759998 | 34751739 | A | ACCCATCC | 3_prime_UTR_variant | MODIFIER | HG01516.hp2 HG01517.hp2 HG03471.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0033a0001c0003t0046 | a0001c0002t0033g0035a0001c0003t0046g0049 | 3 | 446 | 0.0067 | 7 | c.*73 others(16): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 2/2 | 738 | chr15 | TogoVar | |||||
GJD2_chr15_34746032_34759998 | 34751954 | G | GAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG03209.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0023a0001c0003t0054 | a0001c0003t0023g0019a0001c0003t0054g0072 | 5 | 446 | 0.0112 | 7 | c.*52 others(16): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 2/2 | 523 | chr15 | TogoVar | |||||
GKAP1_chr9_83734425_83822769 | 83738939 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG01070.hp1 HG02559.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0157a0001c0001t0003g0192a0001c0001t0003g0193others(3): Show | 6 | 336 | 0.0179 | 7 | c.*75 others(16): Show |
GKAP1 | ENSG00000165113.13 | transcript | ENST00000376371.7 | protein_coding | 485 | chr9 | TogoVar | ||||||
GKAP1_chr9_83734425_83822769 | 83803224 | T | TCCCTCTC | intron_variant | MODIFIER | HG00609.hp2 HG00735.hp1 HG01070.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0011a0001c0001t0003g0148a0001c0001t0003g0149others(46): Show | 50 | 336 | 0.1488 | 7 | c.216 others(24): Show |
GKAP1 | ENSG00000165113.13 | transcript | ENST00000376371.7 | protein_coding | 3/12 | chr9 | TogoVar | ||||||
GK_chrX_30648423_30736462 | 30662163 | C | CCAGATTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(205): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0014others(199): Show | 208 | 286 | 0.7273 | 7 | c.79- others(22): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GK_chrX_30648423_30736462 | 30662831 | C | CTCTTCTT | intron_variant | MODIFIER | HG02027.hp1 HG02129.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225a0001c0001t0002g0226a0001c0001t0002g0227 | 3 | 286 | 0.0105 | 7 | c.79- others(22): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GK_chrX_30648423_30736462 | 30671291 | C | CAAAAAAA | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0100 | 1 | 286 | 0.0035 | 7 | c.259 others(24): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GK_chrX_30648423_30736462 | 30732363 | T | TATATATA | downstream_gene_variant | MODIFIER | HG01978.hp1 NA18946.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0086 | 2 | 286 | 0.0070 | 7 | c.*36 others(18): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 902 | chrX | TogoVar | ||||||
GLA_chrX_101392803_101412925 | 101397452 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00558.hp2 HG01981.hp1 HG02109.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012a0001c0001t0002g0022a0001c0001t0002g0039others(1): Show | 4 | 318 | 0.0126 | 7 | c.*35 others(16): Show |
GLA | ENSG00000102393.15 | transcript | ENST00000218516.4 | protein_coding | 350 | chrX | TogoVar | ||||||
GLB1L2_chr11_134326988_134381324 | 134329608 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01106.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0008others(2): Show | a0001c0001t0001g0163a0001c0001t0001g0184a0001c0001t0003g0029others(6): Show | 9 | 414 | 0.0217 | 7 | c.-24 others(18): Show |
GLB1L2 | ENSG00000149328.16 | transcript | ENST00000535456.7 | protein_coding | 2379 | chr11 | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134274204 | T | TGTTTTTG | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02451.hp2 others(5): Show |
a0003 | a0003c0007a0003c0020 | a0003c0007t0001a0003c0007t0007a0003c0020t0001 | a0003c0007t0001g0117a0003c0007t0001g0122a0003c0007t0001g0125others(5): Show | 8 | 422 | 0.0190 | 7 | c.-25 others(18): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 2174 | chr11 | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134308542 | C | CACCAAAT | intron_variant | MODIFIER | HG00099.hp2 HG01516.hp2 HG01517.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0027a0001c0002t0002g0270 | 3 | 422 | 0.0071 | 7 | c.962 others(24): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GLB1_chr3_32991617_33102146 | 33042370 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00639.hp1 others(61): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0013others(61): Show | 64 | 394 | 0.1624 | 7 | c.106 others(26): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33064441 | T | TAAAAAAA | intron_variant | MODIFIER | HG03225.hp1 HG03669.hp1 HG03704.hp1 others(13): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0090a0001c0001t0001g0091a0001c0001t0001g0092others(13): Show | 16 | 394 | 0.0406 | 7 | c.552 others(24): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 5/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33064776 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02257.hp2 others(8): Show |
a0001a0009 | a0001c0001a0001c0005a0009c0012 | a0001c0001t0001a0001c0005t0001a0001c0005t0002others(1): Show | a0001c0001t0001g0198a0001c0001t0001g0201a0001c0001t0001g0213others(8): Show | 11 | 394 | 0.0279 | 7 | c.552 others(22): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 5/15 | chr3 | TogoVar |