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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GGH_chr8_63010079_63043806 | 63036085 | GGCTGTCA others(7): Show |
G | intron_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0045 | 1 | 426 | 0.0024 | -14 | c.110 others(29): Show |
GGH | ENSG00000137563.13 | transcript | ENST00000260118.7 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
GGNBP2_chr17_36539919_36594848 | 36548615 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG01975.hp2 HG03098.hp1 NA19082.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003a0001c0002t0004 | a0001c0001t0002g0277a0001c0002t0003g0278a0001c0002t0004g0336 | 3 | 357 | 0.0084 | -14 | c.93+ others(29): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GGNBP2_chr17_36539919_36594848 | 36559088 | TCAGGAGT others(7): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0287 | 1 | 357 | 0.0028 | -14 | c.429 others(31): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GGNBP2_chr17_36539919_36594848 | 36576553 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | NA18970.hp2 NA18974.hp1 NA18975.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0036a0001c0002t0003g0049a0001c0002t0003g0052others(1): Show | 4 | 357 | 0.0112 | -14 | c.642 others(31): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GGN_chr19_38379267_38393034 | 38381347 | CTGTGGAA others(7): Show |
C | downstream_gene_variant | MODIFIER | NA18989.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0023 | 1 | 392 | 0.0026 | -14 | c.*30 others(25): Show |
GGN | ENSG00000179168.15 | transcript | ENST00000334928.11 | protein_coding | 2919 | chr19 | TogoVar | ||||||
GGT7_chr20_34839720_34877856 | 34853340 | GGTGTGTG others(7): Show |
G | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0140a0001c0001t0002g0127a0001c0001t0003g0129others(1): Show | 4 | 354 | 0.0113 | -14 | c.132 others(31): Show |
GGT7 | ENSG00000131067.17 | transcript | ENST00000336431.10 | protein_coding | 10/14 | chr20 | TogoVar | ||||||
GGT7_chr20_34839720_34877856 | 34868105 | ATCCGCCC others(7): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(96): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0017a0001c0001t0001g0046a0001c0001t0001g0047others(76): Show | 99 | 354 | 0.2797 | -14 | c.169 others(31): Show |
GGT7 | ENSG00000131067.17 | transcript | ENST00000336431.10 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
GGTA1_chr9_121450040_121504844 | 121496623 | TCAGGAGG others(7): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00741.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0268a0001c0001t0002g0018a0001c0001t0002g0246others(29): Show | 33 | 338 | 0.0976 | -14 | c.-10 others(31): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
GGTLC1_chr20_23980053_23993779 | 23990093 | TCCCCTCT others(7): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 436 | 0.0023 | -14 | c.-15 others(25): Show |
GGTLC1 | ENSG00000149435.12 | transcript | ENST00000335694.4 | protein_coding | 1315 | chr20 | TogoVar | ||||||
GGTLC2_chr22_22639614_22652898 | 22644882 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0016 | a0016c0030 | a0016c0030t0001 | a0016c0030t0001g0262 | 1 | 412 | 0.0024 | -14 | c.-35 others(29): Show |
GGTLC2 | ENSG00000100121.14 | transcript | ENST00000448514.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GGTLC2_chr22_22639614_22652898 | 22652621 | TTTGCTGT others(7): Show |
T | downstream_gene_variant | MODIFIER | HG00558.hp2 HG01255.hp2 HG03654.hp1 others(4): Show |
a0001 | a0001c0004a0001c0027 | a0001c0004t0003a0001c0027t0003 | a0001c0004t0003g0056a0001c0004t0003g0057a0001c0004t0003g0088others(4): Show | 7 | 412 | 0.0170 | -14 | c.*48 others(25): Show |
GGTLC2 | ENSG00000100121.14 | transcript | ENST00000448514.3 | protein_coding | 4724 | chr22 | TogoVar | ||||||
GH1_chr17_63912203_63923839 | 63912815 | TTCTTTCT others(7): Show |
T | downstream_gene_variant | MODIFIER | NA20752.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0042 | 1 | 420 | 0.0024 | -14 | c.*44 others(25): Show |
GH1 | ENSG00000259384.7 | transcript | ENST00000323322.10 | protein_coding | 4387 | chr17 | TogoVar | ||||||
GHDC_chr17_42184087_42199494 | 42187582 | CTTTTTTT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02970.hp1 NA18945.hp1 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0019a0005c0006t0001g0025 | 3 | 374 | 0.0080 | -14 | c.*21 others(25): Show |
GHDC | ENSG00000167925.17 | transcript | ENST00000587427.6 | protein_coding | 1504 | chr17 | TogoVar | ||||||
GHRL_chr3_10280666_10297947 | 10295590 | ATTTGTTT others(7): Show |
A | upstream_gene_variant | MODIFIER | HG02622.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 2 | 462 | 0.0043 | -14 | c.-35 others(25): Show |
GHRL | ENSG00000157017.16 | transcript | ENST00000335542.13 | protein_coding | 2644 | chr3 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42424171 | AGTGTGTG others(7): Show |
A | intron_variant | MODIFIER | NA18940.hp2 NA18967.hp1 |
a0004 | a0004c0004 | a0004c0004t0011 | a0004c0004t0011g0001a0004c0004t0011g0002 | 2 | 210 | 0.0095 | -14 | c.-12 others(29): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42567767 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0079 | 1 | 210 | 0.0048 | -14 | c.70+ others(29): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42576045 | ATAATAAA others(7): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG02896.hp2 HG02897.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0004a0002c0002t0001others(2): Show | a0001c0001t0002g0156a0001c0001t0004g0051a0002c0002t0001g0107others(4): Show | 7 | 210 | 0.0333 | -14 | c.70+ others(31): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42617384 | TTACACAC others(7): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0008 | a0001c0008t0007 | a0001c0008t0007g0083a0001c0008t0007g0084 | 2 | 210 | 0.0095 | -14 | c.71- others(31): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | chr5 | TogoVar | ||||||
GHSR_chr3_172438291_172453456 | 172452627 | CATGTGTG others(7): Show |
C | upstream_gene_variant | MODIFIER | HG01433.hp2 HG01891.hp1 HG02615.hp1 others(5): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0004a0001c0001t0011a0001c0002t0001others(3): Show | a0001c0001t0004g0004a0001c0001t0004g0010a0001c0001t0011g0033others(4): Show | 8 | 446 | 0.0179 | -14 | c.-42 others(25): Show |
GHSR | ENSG00000121853.4 | transcript | ENST00000241256.3 | protein_coding | 4172 | chr3 | TogoVar | ||||||
GID4_chr17_18034408_18073405 | 18058272 | TCTGCAAA others(7): Show |
T | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0180 | 1 | 308 | 0.0033 | -14 | c.607 others(29): Show |
GID4 | ENSG00000141034.10 | transcript | ENST00000268719.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GIGYF2_chr2_232692331_232865605 | 232836263 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | NA18939.hp1 NA18946.hp1 NA18955.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0003a0002c0001t0002 | a0001c0003t0003g0152a0001c0003t0003g0166a0002c0001t0002g0051others(1): Show | 4 | 376 | 0.0106 | -14 | c.276 others(33): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIGYF2_chr2_232692331_232865605 | 232836317 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG03195.hp1 HG04115.hp1 |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0004 | a0002c0001t0002g0068a0002c0001t0004g0036 | 2 | 376 | 0.0053 | -14 | c.276 others(33): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIMAP1_chr7_150711613_150729284 | 150721887 | TCACACAC others(7): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00597.hp1 others(37): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0011 | a0001c0001t0003a0001c0001t0027a0001c0001t0043others(3): Show | a0001c0001t0003g0001a0001c0001t0003g0002a0001c0001t0003g0020others(8): Show | 40 | 434 | 0.0922 | -14 | c.*98 others(23): Show |
GIMAP1 | ENSG00000213203.3 | transcript | ENST00000307194.6 | protein_coding | 3/3 | 981 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
GIMAP2_chr7_150680706_150698641 | 150685326 | GCTTTAGA others(7): Show |
G | upstream_gene_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 456 | 0.0022 | -14 | c.-46 others(23): Show |
GIMAP2 | ENSG00000106560.11 | transcript | ENST00000223293.10 | protein_coding | 379 | chr7 | TogoVar | ||||||
GIMAP2_chr7_150680706_150698641 | 150687105 | CGTGTGTG others(7): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG02922.hp1 HG03195.hp2 others(4): Show |
a0001a0003a0005 | a0001c0002a0003c0006a0005c0008 | a0001c0002t0001a0003c0006t0001a0005c0008t0001 | a0001c0002t0001g0017a0003c0006t0001g0088a0005c0008t0001g0017 | 7 | 456 | 0.0154 | -14 | c.28+ others(25): Show |
GIMAP2 | ENSG00000106560.11 | transcript | ENST00000223293.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GIMAP8_chr7_150445630_150484393 | 150476779 | AGGGAGTC others(7): Show |
A | intron_variant | MODIFIER | NA18981.hp1 | a0008 | a0008c0018 | a0008c0018t0001 | a0008c0018t0001g0171 | 1 | 372 | 0.0027 | -14 | c.131 others(31): Show |
GIMAP8 | ENSG00000171115.4 | transcript | ENST00000307271.4 | protein_coding | 4/4 | chr7 | TogoVar | ||||||
GIN1_chr5_103081000_103125138 | 103092945 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 322 | 0.0031 | -14 | c.129 others(33): Show |
GIN1 | ENSG00000145723.17 | transcript | ENST00000399004.7 | protein_coding | 7/7 | chr5 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149562261 | CTTATATA others(7): Show |
C | upstream_gene_variant | MODIFIER | HG02080.hp2 HG02523.hp1 HG03654.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0217a0001c0001t0003g0169a0001c0001t0003g0176others(5): Show | 10 | 380 | 0.0263 | -14 | c.-41 others(25): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4113 | chr6 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149562262 | TTATATAT others(7): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG02273.hp1 NA18955.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0033a0001c0001t0001g0035a0001c0001t0003g0270others(1): Show | 4 | 380 | 0.0105 | -14 | c.-41 others(25): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4112 | chr6 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149562304 | ATATATAT others(7): Show |
A | upstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 380 | 0.0026 | -14 | c.-41 others(25): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4070 | chr6 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149562306 | ATATATAT others(7): Show |
A | upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 380 | 0.0026 | -14 | c.-41 others(25): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4068 | chr6 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149562310 | ATATATAT others(7): Show |
A | upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0222 | 1 | 380 | 0.0026 | -14 | c.-41 others(25): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4064 | chr6 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149570134 | TTTTATAT others(7): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02630.hp1 HG02683.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0091a0001c0001t0001g0092a0001c0001t0001g0262others(1): Show | 4 | 380 | 0.0105 | -14 | c.121 others(31): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GINM1_chr6_149561375_149596748 | 149570136 | TTATATAT others(7): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG01952.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0251a0001c0001t0001g0272a0001c0001t0003g0118others(5): Show | 8 | 380 | 0.0211 | -14 | c.121 others(31): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GINS1_chr20_25402673_25453563 | 25423452 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0148 | 1 | 360 | 0.0028 | -14 | c.331 others(31): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
GINS1_chr20_25402673_25453563 | 25428969 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(80): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0019 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0011others(72): Show | 83 | 360 | 0.2306 | -14 | c.447 others(31): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
GINS2_chr16_85671198_85693954 | 85673077 | CTTCAAAG others(7): Show |
C | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01255.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0028a0001c0002t0001a0001c0002t0037others(3): Show | a0001c0001t0028g0049a0001c0002t0001g0001a0001c0002t0037g0240others(10): Show | 19 | 470 | 0.0404 | -14 | c.*51 others(25): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 3120 | chr16 | TogoVar | ||||||
GINS3_chr16_58387471_58411147 | 58409230 | CTGTGTGT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(119): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(70): Show | 122 | 434 | 0.2811 | -14 | c.*45 others(25): Show |
GINS3 | ENSG00000181938.14 | transcript | ENST00000318129.6 | protein_coding | 3084 | chr16 | TogoVar | ||||||
GIPC2_chr1_78040966_78143444 | 78142678 | TACACACA others(7): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(123): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0015others(1): Show | a0001c0001t0001a0001c0001t0016a0002c0002t0001others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0067a0001c0001t0001g0072others(119): Show | 126 | 332 | 0.3795 | -14 | c.*69 others(25): Show |
GIPC2 | ENSG00000137960.6 | transcript | ENST00000370759.4 | protein_coding | 4235 | chr1 | TogoVar | ||||||
GIPC3_chr19_3580478_3598541 | 3593608 | AACTGTGG others(7): Show |
A | downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 430 | 0.0023 | -14 | c.*34 others(25): Show |
GIPC3 | ENSG00000179855.9 | transcript | ENST00000644452.3 | protein_coding | 68 | chr19 | TogoVar | ||||||
GIP_chr17_48953554_48973596 | 48957164 | CTTTTTTT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 406 | 0.0025 | -14 | c.*15 others(25): Show |
GIP | ENSG00000159224.4 | transcript | ENST00000357424.2 | protein_coding | 1389 | chr17 | TogoVar | ||||||
GIT2_chr12_109924804_110001368 | 109964620 | GACACACA others(7): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0196 | 1 | 242 | 0.0041 | -14 | c.816 others(29): Show |
GIT2 | ENSG00000139436.22 | transcript | ENST00000355312.8 | protein_coding | 9/19 | chr12 | TogoVar | ||||||
GJA8_chr1_147897795_147914269 | 147899911 | AAGAAAGA others(7): Show |
A | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01106.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 2 | 472 | 0.0042 | -14 | c.-29 others(25): Show |
GJA8 | ENSG00000121634.6 | transcript | ENST00000369235.2 | protein_coding | 2883 | chr1 | TogoVar | ||||||
GJA8_chr1_147897795_147914269 | 147899929 | AAGAAAGA others(7): Show |
A | upstream_gene_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 472 | 0.0021 | -14 | c.-29 others(25): Show |
GJA8 | ENSG00000121634.6 | transcript | ENST00000369235.2 | protein_coding | 2865 | chr1 | TogoVar | ||||||
GJA9_chr1_38869069_38886587 | 38870799 | CAAAAAAA others(7): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0013a0001c0001t0004g0017 | 2 | 444 | 0.0045 | -14 | c.*37 others(25): Show |
GJA9 | ENSG00000131233.10 | transcript | ENST00000357771.5 | protein_coding | 3269 | chr1 | TogoVar | ||||||
GJA9_chr1_38869069_38886587 | 38882341 | TATATATA others(7): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01255.hp2 NA20129.hp1 others(1): Show |
a0001a0007 | a0001c0001a0007c0015 | a0001c0001t0004a0007c0015t0006 | a0001c0001t0004g0016a0007c0015t0006g0075 | 4 | 444 | 0.0090 | -14 | c.-10 others(25): Show |
GJA9 | ENSG00000131233.10 | transcript | ENST00000357771.5 | protein_coding | 755 | chr1 | TogoVar | ||||||
GJA9_chr1_38869069_38886587 | 38883298 | TACACACA others(7): Show |
T | upstream_gene_variant | MODIFIER | HG00609.hp2 NA18989.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0002a0001c0004t0002g0003 | 2 | 444 | 0.0045 | -14 | c.-19 others(25): Show |
GJA9 | ENSG00000131233.10 | transcript | ENST00000357771.5 | protein_coding | 1712 | chr1 | TogoVar | ||||||
GJC1_chr17_44793448_44835287 | 44822196 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0106 | 1 | 380 | 0.0026 | -14 | c.-97 others(31): Show |
GJC1 | ENSG00000182963.11 | transcript | ENST00000592524.6 | protein_coding | 1/2 | chr17 | TogoVar | ||||||
GJC1_chr17_44793448_44835287 | 44833244 | TGTGTGTG others(7): Show |
T | upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0105 | 1 | 380 | 0.0026 | -14 | c.-32 others(25): Show |
GJC1 | ENSG00000182963.11 | transcript | ENST00000592524.6 | protein_coding | 2958 | chr17 | TogoVar | ||||||
GJC3_chr7_99918266_99934620 | 99934448 | GAGGGGTG others(7): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 392 | 0.0026 | -14 | c.-48 others(25): Show |
GJC3 | ENSG00000176402.6 | transcript | ENST00000312891.3 | protein_coding | 4829 | chr7 | TogoVar |