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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GLYCTK_chr3_52282828_52300257 | 52283821 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(246): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(36): Show | 249 | 366 | 0.6803 | 7 | c.-40 others(18): Show |
GLYCTK | ENSG00000168237.18 | transcript | ENST00000436784.7 | protein_coding | 4006 | chr3 | TogoVar | ||||||
GLYR1_chr16_4798203_4852288 | 4810853 | C | CCAGCACT | intron_variant | MODIFIER | HG01255.hp2 HG01981.hp1 HG02004.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0197a0001c0002t0001g0295a0001c0002t0001g0301 | 3 | 352 | 0.0085 | 7 | c.158 others(24): Show |
GLYR1 | ENSG00000140632.17 | transcript | ENST00000321919.14 | protein_coding | 15/15 | chr16 | TogoVar | ||||||
GLYR1_chr16_4798203_4852288 | 4841457 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG02965.hp2 NA18945.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0153a0001c0001t0003g0150a0001c0001t0003g0151others(3): Show | 6 | 352 | 0.0171 | 7 | c.155 others(24): Show |
GLYR1 | ENSG00000140632.17 | transcript | ENST00000321919.14 | protein_coding | 3/15 | chr16 | TogoVar | ||||||
GLYR1_chr16_4798203_4852288 | 4849949 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02559.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(5): Show | a0001c0001t0001g0089a0001c0001t0004g0054a0001c0001t0009g0087others(13): Show | 18 | 352 | 0.0511 | 7 | c.-26 others(18): Show |
GLYR1 | ENSG00000140632.17 | transcript | ENST00000321919.14 | protein_coding | 2662 | chr16 | TogoVar | ||||||
GM2A_chr5_151248185_151275440 | 151266447 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(86): Show |
a0001a0006 | a0001c0002a0006c0009 | a0001c0002t0001a0001c0002t0013a0001c0002t0016others(7): Show | a0001c0002t0001g0002a0001c0002t0001g0009a0001c0002t0001g0017others(32): Show | 89 | 412 | 0.2160 | 7 | c.244 others(22): Show |
GM2A | ENSG00000196743.9 | transcript | ENST00000357164.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GMCL1_chr2_69824660_69886384 | 69838336 | C | CAAAAAAA | intron_variant | MODIFIER | HG02145.hp1 HG02630.hp1 HG02723.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0001g0158a0001c0001t0001g0160a0001c0001t0001g0162others(11): Show | 15 | 390 | 0.0385 | 7 | c.384 others(22): Show |
GMCL1 | ENSG00000087338.5 | transcript | ENST00000282570.4 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GMCL2_chr5_178179505_178192371 | 178187475 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01099.hp1 HG01515.hp1 others(20): Show |
a0003a0004 | a0003c0003a0003c0022a0004c0004 | a0003c0003t0003a0003c0022t0003a0004c0004t0004 | a0003c0003t0003g0000a0003c0022t0003g0000a0004c0004t0004g0000 | 23 | 452 | 0.0509 | 7 | c.-17 others(16): Show |
GMCL2 | ENSG00000244234.3 | transcript | ENST00000463439.3 | protein_coding | 105 | chr5 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 1652380 | A | AAAAATAT | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0042a0001c0001t0001g0070a0001c0001t0001g0082others(3): Show | 6 | 166 | 0.0361 | 7 | c.988 others(26): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 9/10 | chr6 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 1652591 | A | AATATATT | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0043a0001c0002t0001g0162 | 2 | 166 | 0.0121 | 7 | c.988 others(26): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 9/10 | chr6 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 1652717 | T | TTAGAGAG | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01106.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0024a0001c0001t0001g0122a0001c0001t0001g0127others(2): Show | 5 | 166 | 0.0301 | 7 | c.988 others(26): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 9/10 | chr6 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 1905878 | T | TAGGTGGG | intron_variant | MODIFIER | HG00140.hp2 HG01175.hp1 HG01243.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012others(31): Show | 34 | 166 | 0.2048 | 7 | c.771 others(26): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 2059707 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00544.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0024a0001c0001t0001g0033a0001c0001t0001g0102others(14): Show | 17 | 166 | 0.1024 | 7 | c.345 others(26): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | ||||||
GMEB1_chr1_28663784_28724353 | 28701268 | C | CTTTTTTT | intron_variant | MODIFIER | HG01261.hp1 HG01346.hp1 HG01928.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0127a0001c0001t0001g0172a0001c0001t0001g0210others(17): Show | 20 | 290 | 0.0690 | 7 | c.599 others(24): Show |
GMEB1 | ENSG00000162419.13 | transcript | ENST00000373816.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GMEB1_chr1_28663784_28724353 | 28721141 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0127a0001c0001t0001g0172a0001c0001t0001g0210others(21): Show | 25 | 290 | 0.0862 | 7 | c.*63 others(18): Show |
GMEB1 | ENSG00000162419.13 | transcript | ENST00000373816.6 | protein_coding | 1789 | chr1 | TogoVar | ||||||
GMFB_chr14_54469485_54493980 | 54487299 | A | AGCACTTT | intron_variant | MODIFIER | HG00597.hp1 HG01099.hp2 HG01255.hp2 others(45): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0013others(1): Show | a0001c0001t0002g0003a0001c0001t0002g0022a0001c0001t0002g0037others(3): Show | 48 | 354 | 0.1356 | 7 | c.3+1 others(20): Show |
GMFB | ENSG00000197045.14 | transcript | ENST00000358056.8 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
GMFG_chr19_39323359_39341043 | 39326705 | G | GGGGGGGA | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00621.hp1 others(31): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(17): Show | 34 | 374 | 0.0909 | 7 | c.*17 others(18): Show |
GMFG | ENSG00000130755.13 | transcript | ENST00000597595.6 | protein_coding | 1653 | chr19 | TogoVar | ||||||
GMPR_chr6_16233587_16300549 | 16238250 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG02145.hp1 HG02738.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0031others(5): Show | 8 | 344 | 0.0233 | 7 | c.-44 others(16): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 336 | chr6 | TogoVar | ||||||
GMPR_chr6_16233587_16300549 | 16289848 | A | ATTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG01169.hp1 HG02630.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0253a0001c0001t0001g0326a0001c0001t0003g0098others(3): Show | 6 | 344 | 0.0174 | 7 | c.698 others(22): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GMPR_chr6_16233587_16300549 | 16296660 | G | GTTTTTTT | downstream_gene_variant | MODIFIER | HG01361.hp1 HG02523.hp2 HG02886.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0003t0001a0001c0003t0003others(2): Show | a0001c0001t0003g0016a0001c0001t0003g0207a0001c0003t0001g0217others(7): Show | 10 | 344 | 0.0291 | 7 | c.*14 others(18): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 1112 | chr6 | TogoVar | ||||||
GMPS_chr3_155865650_155949020 | 155886611 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01358.hp2 others(14): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0005a0001c0002t0011a0001c0002t0018others(3): Show | a0001c0002t0005g0017a0001c0002t0005g0265a0001c0002t0005g0266others(13): Show | 17 | 380 | 0.0447 | 7 | c.28- others(22): Show |
GMPS | ENSG00000163655.16 | transcript | ENST00000496455.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GNA11_chr19_3089362_3128999 | 3103519 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0032others(5): Show | a0001c0001t0003g0044a0001c0001t0003g0046a0001c0001t0003g0152others(16): Show | 21 | 425 | 0.0494 | 7 | c.137 others(24): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GNA12_chr7_2723105_2849308 | 2789132 | C | CTTTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG01192.hp2 HG03098.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0113others(4): Show | 7 | 322 | 0.0217 | 7 | c.525 others(24): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 2/3 | chr7 | TogoVar | ||||||
GNA12_chr7_2723105_2849308 | 2816240 | C | CTTTTTTT | intron_variant | MODIFIER | NA18959.hp1 NA18969.hp1 NA19011.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0216a0001c0001t0001g0251a0001c0003t0001g0235others(3): Show | 6 | 322 | 0.0186 | 7 | c.310 others(26): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 1/3 | chr7 | TogoVar | ||||||
GNA12_chr7_2723105_2849308 | 2820401 | C | CTTTTTTT | intron_variant | MODIFIER | HG02886.hp1 HG03098.hp2 HG03195.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0012a0001c0001t0017a0002c0006t0027 | a0001c0001t0012g0298a0001c0001t0012g0316a0001c0001t0012g0317others(3): Show | 6 | 322 | 0.0186 | 7 | c.309 others(26): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 1/3 | chr7 | TogoVar | ||||||
GNA12_chr7_2723105_2849308 | 2842099 | A | AAGAGAAG | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(88): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(88): Show | 91 | 322 | 0.2826 | 7 | c.309 others(24): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 1/3 | chr7 | TogoVar | ||||||
GNA13_chr17_65004289_65061740 | 65037777 | G | GAAAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG01496.hp2 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0058a0001c0001t0001g0084 | 3 | 180 | 0.0167 | 7 | c.510 others(26): Show |
GNA13 | ENSG00000120063.10 | transcript | ENST00000439174.7 | protein_coding | 2/3 | chr17 | TogoVar | ||||||
GNA14_chr9_77418079_77653322 | 77431024 | T | TGTGTGTG | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG00738.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0046a0001c0001t0001g0064a0001c0001t0003g0002others(7): Show | 10 | 240 | 0.0417 | 7 | c.593 others(22): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 4/6 | chr9 | TogoVar | ||||||
GNA14_chr9_77418079_77653322 | 77622731 | C | CAAAAAAA | intron_variant | MODIFIER | HG01175.hp1 HG01256.hp1 HG02257.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(7): Show | a0001c0001t0001g0093a0001c0001t0005g0231a0001c0002t0001g0080others(9): Show | 12 | 240 | 0.0500 | 7 | c.124 others(26): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
GNA15_chr19_3131033_3168749 | 3145359 | A | ATATATAT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0007others(1): Show | a0001c0001t0001g0049a0001c0001t0001g0132a0001c0001t0001g0224others(19): Show | 22 | 450 | 0.0489 | 7 | c.146 others(24): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GNA15_chr19_3131033_3168749 | 3145359 | A | ATATATTT | intron_variant | MODIFIER | HG00738.hp1 HG01361.hp2 HG01433.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(3): Show | a0001c0001t0001g0144a0001c0001t0001g0254a0001c0001t0011g0274others(10): Show | 13 | 450 | 0.0289 | 7 | c.146 others(24): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GNA15_chr19_3131033_3168749 | 3145360 | T | TATATATA | intron_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01993.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0073a0001c0001t0001g0328a0001c0002t0001g0227others(4): Show | 8 | 450 | 0.0178 | 7 | c.146 others(24): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | chr19 | TogoVar | ||||||
GNA15_chr19_3131033_3168749 | 3168631 | T | TTTATTTA | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp2 others(51): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0014a0001c0001t0001g0026a0001c0001t0001g0068others(49): Show | 54 | 450 | 0.1200 | 7 | c.*56 others(18): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 4883 | chr19 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11825729 | C | CAAAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG00741.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0146a0001c0001t0001g0234a0001c0001t0003g0037others(14): Show | 17 | 248 | 0.0686 | 7 | c.722 others(22): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GNAL_chr18_11684264_11890685 | 11839552 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(83): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(75): Show | a0001c0001t0001g0112a0001c0001t0002g0215a0001c0001t0002g0223others(83): Show | 86 | 248 | 0.3468 | 7 | c.722 others(26): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GNAL_chr18_11684264_11890685 | 11864086 | C | CTTTTTTT | intron_variant | MODIFIER | HG01891.hp1 HG02630.hp1 HG02630.hp2 others(14): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0003a0001c0001t0012a0001c0001t0022others(12): Show | a0001c0001t0003g0017a0001c0001t0012g0244a0001c0001t0012g0245others(14): Show | 17 | 248 | 0.0686 | 7 | c.778 others(22): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GNAL_chr18_11747085_11890685 | 11825729 | C | CAAAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp2 HG01516.hp1 others(15): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002a0001c0001t0002g0195a0001c0001t0002g0203others(15): Show | 18 | 284 | 0.0634 | 7 | c.491 others(22): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GNAL_chr18_11747085_11890685 | 11839552 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(105): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0018a0001c0001t0001g0031a0001c0001t0001g0032others(105): Show | 108 | 284 | 0.3803 | 7 | c.491 others(26): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GNAL_chr18_11747085_11890685 | 11864086 | C | CTTTTTTT | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp1 HG02630.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0009a0001c0001t0020others(12): Show | a0001c0001t0003g0263a0001c0001t0009g0224a0001c0001t0020g0070others(14): Show | 17 | 284 | 0.0599 | 7 | c.547 others(22): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GNAO1_chr16_56186489_56362444 | 56359469 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01258.hp2 HG02015.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0012 | a0001c0001t0001g0050a0001c0001t0001g0192a0001c0001t0001g0202others(3): Show | 6 | 298 | 0.0201 | 7 | c.*33 others(18): Show |
GNAO1 | ENSG00000087258.16 | transcript | ENST00000262493.12 | protein_coding | 2026 | chr16 | TogoVar | ||||||
GNAQ_chr9_77711097_78036811 | 77828059 | C | CAAAAAAA | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG01069.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0001g0182a0001c0001t0001g0204a0001c0001t0001g0244others(21): Show | 24 | 282 | 0.0851 | 7 | c.322 others(26): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
GNAQ_chr9_77711097_78036811 | 77894356 | A | AAATATAT | intron_variant | MODIFIER | HG02559.hp1 NA19043.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0072a0001c0001t0078a0001c0001t0082 | a0001c0001t0072g0035a0001c0001t0078g0085a0001c0001t0082g0083 | 3 | 282 | 0.0106 | 7 | c.321 others(26): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
GNAQ_chr9_77711097_78036811 | 77904317 | C | CTTTTTTT | intron_variant | MODIFIER | HG02083.hp2 HG04184.hp1 NA18942.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(2): Show | a0001c0001t0001g0206a0001c0001t0001g0234a0001c0001t0003g0251others(5): Show | 8 | 282 | 0.0284 | 7 | c.321 others(26): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
GNAS_chr20_58834748_58916192 | 58902725 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00735.hp2 others(15): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0033a0001c0001t0001g0057a0001c0001t0001g0081others(14): Show | 18 | 302 | 0.0596 | 7 | c.*16 others(24): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371075.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
GNAS_chr20_58847716_58916192 | 58902725 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00735.hp1 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0076a0001c0001t0001g0081a0001c0001t0001g0082others(14): Show | 18 | 302 | 0.0596 | 7 | c.218 others(24): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371100.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
GNAS_chr20_58886421_58916192 | 58902725 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00735.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0005a0001c0001t0001g0071a0001c0001t0001g0091others(14): Show | 26 | 432 | 0.0602 | 7 | c.258 others(22): Show |
GNAS | ENSG00000087460.29 | transcript | ENST00000371085.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
GNAZ_chr22_23065519_23130032 | 23070353 | T | TGGCGGCG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(134): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0055a0001c0001t0001g0164a0001c0001t0001g0231others(117): Show | 137 | 334 | 0.4102 | 7 | c.-66 others(16): Show |
GNAZ | ENSG00000128266.9 | transcript | ENST00000615612.2 | protein_coding | 165 | chr22 | TogoVar | ||||||
GNB1L_chr22_19778223_19859874 | 19847803 | G | GGAAAAAA | intron_variant | MODIFIER | HG03195.hp1 HG03516.hp1 HG03540.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0021a0001c0001t0055a0002c0002t0020 | a0001c0001t0021g0246a0001c0001t0055g0247a0002c0002t0020g0232 | 3 | 326 | 0.0092 | 7 | c.-21 others(24): Show |
GNB1L | ENSG00000185838.14 | transcript | ENST00000329517.11 | protein_coding | 2/7 | chr22 | TogoVar | ||||||
GNB3_chr12_6835925_6852393 | 6844091 | G | GTCTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG02027.hp1 NA18947.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006a0001c0001t0003g0014a0001c0001t0003g0022others(2): Show | 21 | 422 | 0.0498 | 7 | c.699 others(22): Show |
GNB3 | ENSG00000111664.11 | transcript | ENST00000229264.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GNB4_chr3_179391088_179456470 | 179391111 | A | ACACATTT | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02572.hp2 HG02630.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0034a0001c0002t0050 | a0001c0002t0007g0008a0001c0002t0007g0199a0001c0002t0007g0200others(7): Show | 12 | 400 | 0.0300 | 7 | c.*10 others(20): Show |
GNB4 | ENSG00000114450.11 | transcript | ENST00000232564.8 | protein_coding | 4976 | chr3 | TogoVar | ||||||
GNB5_chr15_52110100_52196392 | 52112811 | G | GCCCCGGC | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01496.hp1 HG01891.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0023a0001c0001t0094a0001c0001t0141others(10): Show | a0001c0001t0023g0296a0001c0001t0023g0297a0001c0001t0094g0090others(13): Show | 16 | 366 | 0.0437 | 7 | c.*99 others(18): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 2288 | chr15 | TogoVar |