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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXOC6B_chr2_72170984_72831033 | 72512314 | CGGAAGGA others(57): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0028 | 1 | 104 | 0.0096 | -64 | c.116 others(81): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 11/21 | chr2 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72512363 | GGAAAGAA others(57): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0019 | 1 | 104 | 0.0096 | -64 | c.116 others(81): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 11/21 | chr2 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65317821 | CCTTCCTT others(57): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02896.hp1 |
a0004a0005a0015 | a0004c0017a0005c0010a0015c0011 | a0004c0017t0001a0005c0010t0001a0015c0011t0002 | a0004c0017t0001g0002a0005c0010t0001g0015a0015c0011t0002g0018 | 3 | 24 | 0.1250 | -64 | c.176 others(85): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 11/42 | chr6 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113112574 | GAGGTCAC others(57): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 400 | 0.0025 | -64 | c.226 others(81): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FAM174B_chr15_92612448_92660775 | 92631111 | CATATTAT others(57): Show |
C | intron_variant | MODIFIER | HG04184.hp1 NA19087.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0035 | a0001c0001t0001g0209a0001c0001t0007g0063a0001c0001t0035g0285 | 3 | 394 | 0.0076 | -64 | c.345 others(79): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
FAM20A_chr17_68530116_68606367 | 68571939 | AATATATA others(57): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG02074.hp1 NA18987.hp2 others(5): Show |
a0001a0002 | a0001c0004a0001c0005a0002c0010 | a0001c0004t0002a0001c0004t0003a0001c0004t0004others(2): Show | a0001c0004t0002g0016a0001c0004t0002g0026a0001c0004t0003g0031others(5): Show | 8 | 380 | 0.0211 | -64 | c.405 others(83): Show |
FAM20A | ENSG00000108950.12 | transcript | ENST00000592554.2 | protein_coding | 1/10 | chr17 | TogoVar | ||||||
FAM9B_chrX_9019232_9039127 | 9021406 | ATTATATA others(57): Show |
A | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02886.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0048 | 4 | 258 | 0.0155 | -64 | c.*39 others(75): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2825 | chrX | TogoVar | ||||||
FANCD2_chr3_10021437_10106932 | 10054382 | TATATATG others(57): Show |
T | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0058 | 1 | 242 | 0.0041 | -64 | c.165 others(83): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 18/43 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FBXO17_chr19_38936401_38980742 | 38945398 | GGTGGAGC others(57): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG02040.hp1 HG02970.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0011 | a0001c0001t0001g0172a0001c0001t0001g0332a0001c0004t0011g0321 | 3 | 398 | 0.0075 | -64 | c.558 others(79): Show |
FBXO17 | ENSG00000269190.6 | transcript | ENST00000292852.9 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
FBXO17_chr19_38936401_38980742 | 38945478 | GGGGGAGG others(57): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(122): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0015others(6): Show | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0011others(113): Show | 125 | 398 | 0.3141 | -64 | c.558 others(79): Show |
FBXO17 | ENSG00000269190.6 | transcript | ENST00000292852.9 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
FBXO34_chr14_55266421_55358611 | 55318333 | CATATATA others(57): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01074.hp2 others(11): Show |
a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0155a0005c0005t0003g0156a0005c0005t0003g0157others(11): Show | 14 | 334 | 0.0419 | -64 | c.-10 others(83): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FCER2_chr19_7683776_7707131 | 7688879 | GCATCTGG others(57): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00642.hp1 others(23): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0002a0001c0005t0002 | a0001c0003t0002g0009a0001c0003t0002g0107a0001c0003t0002g0112others(12): Show | 26 | 456 | 0.0570 | -64 | c.*25 others(73): Show |
FCER2 | ENSG00000104921.15 | transcript | ENST00000597921.6 | protein_coding | 11/11 | 250 | chr19 | TogoVar | |||||
FDX1_chr11_110424948_110469884 | 110444644 | GTGTGTGT others(57): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02257.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0011 | a0001c0001t0002g0029a0001c0001t0002g0035a0001c0001t0002g0219others(9): Show | 13 | 400 | 0.0325 | -64 | c.310 others(81): Show |
FDX1 | ENSG00000137714.3 | transcript | ENST00000260270.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FER1L5_chr2_96637764_96709883 | 96659354 | CTTCCTTC others(57): Show |
C | intron_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0050 | 1 | 226 | 0.0044 | -64 | c.748 others(79): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 9/52 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FEZ1_chr11_125437881_125501265 | 125493385 | AGAAAGAA others(57): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0316 | 1 | 356 | 0.0028 | -64 | c.-46 others(81): Show |
FEZ1 | ENSG00000149557.14 | transcript | ENST00000278919.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
FGD3_chr9_92942523_93041233 | 93010604 | GGAGAAAC others(57): Show |
G | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0311 | 1 | 322 | 0.0031 | -64 | c.976 others(79): Show |
FGD3 | ENSG00000127084.19 | transcript | ENST00000375482.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FGFRL1_chr4_1006626_1031898 | 1020731 | CGGGGTGG others(57): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 414 | 0.0024 | -64 | c.80- others(79): Show |
FGFRL1 | ENSG00000127418.15 | transcript | ENST00000510644.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
FHIP2B_chr8_22084150_22109911 | 22097292 | AGCTCTGA others(57): Show |
A | intron_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0166 | 1 | 394 | 0.0025 | -64 | c.298 others(78): Show |
FHIP2B | ENSG00000158863.22 | transcript | ENST00000289921.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
FHIT_chr3_59742277_61256452 | 60860493 | TATATATC others(57): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 46 | 0.0217 | -64 | c.-11 others(85): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60860762 | ATACATAT others(57): Show |
A | intron_variant | MODIFIER | HG02630.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0013a0001c0001t0011g0004 | 2 | 46 | 0.0435 | -64 | c.-11 others(85): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
FLI1_chr11_128689072_128818267 | 128815612 | ATCTGTCT others(57): Show |
A | downstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0320 | 1 | 328 | 0.0031 | -64 | c.*46 others(75): Show |
FLI1 | ENSG00000151702.18 | transcript | ENST00000527786.7 | protein_coding | 2346 | chr11 | TogoVar | ||||||
FLT1_chr13_28295346_28500128 | 28473749 | GGAAGGAA others(57): Show |
G | intron_variant | MODIFIER | HG02965.hp1 HG02970.hp1 |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0039 | a0001c0003t0008g0043a0001c0003t0039g0044 | 2 | 228 | 0.0088 | -64 | c.65- others(79): Show |
FLT1 | ENSG00000102755.13 | transcript | ENST00000282397.9 | protein_coding | 1/29 | chr13 | TogoVar | ||||||
FLT4_chr5_180596506_180654600 | 180634930 | GTGGGTGG others(57): Show |
G | intron_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0285 | 1 | 388 | 0.0026 | -64 | c.59- others(79): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | ||||||
FMN1_chr15_32760544_33199714 | 32777932 | CATTATAT others(57): Show |
C | intron_variant | MODIFIER | HG02559.hp1 NA19240.hp2 |
a0008a0020 | a0008c0009a0020c0075 | a0008c0009t0011a0020c0075t0011 | a0008c0009t0011g0182a0020c0075t0011g0149 | 2 | 196 | 0.0102 | -64 | c.413 others(83): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 19/20 | chr15 | TogoVar | ||||||
FMN1_chr15_32760544_33199714 | 32801425 | TGGCTTTG others(57): Show |
T | intron_variant | MODIFIER | HG00140.hp1 | a0006 | a0006c0008 | a0006c0008t0005 | a0006c0008t0005g0122 | 1 | 196 | 0.0051 | -64 | c.398 others(83): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 18/20 | chr15 | TogoVar | ||||||
FNBP1_chr9_129882187_130048189 | 130047245 | ATTAATTA others(57): Show |
A | upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 212 | 0.0047 | -64 | c.-43 others(75): Show |
FNBP1 | ENSG00000187239.19 | transcript | ENST00000446176.7 | protein_coding | 4057 | chr9 | TogoVar | ||||||
FOLR1_chr11_72187140_72201299 | 72201186 | ATACACGT others(57): Show |
A | downstream_gene_variant | MODIFIER | NA18981.hp1 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 412 | 0.0049 | -64 | c.*50 others(75): Show |
FOLR1 | ENSG00000110195.14 | transcript | ENST00000393676.5 | protein_coding | 4888 | chr11 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71396950 | GTATATAT others(57): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0074 | 1 | 96 | 0.0104 | -64 | c.-16 others(85): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
FRK_chr6_115926149_116065891 | 115958640 | AAAGAAAA others(57): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0268 | 1 | 274 | 0.0037 | -64 | c.800 others(81): Show |
FRK | ENSG00000111816.8 | transcript | ENST00000606080.2 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
FRMD1_chr6_168048095_168084212 | 168070287 | GGAAAGAA others(57): Show |
G | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 402 | 0.0025 | -64 | c.305 others(81): Show |
FRMD1 | ENSG00000153303.18 | transcript | ENST00000283309.11 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
FRMD1_chr6_168048095_168084212 | 168078615 | CCTGCTCA others(57): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02896.hp1 NA18906.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0019 | a0001c0002t0002g0048a0001c0004t0019g0200 | 3 | 402 | 0.0075 | -64 | c.213 others(79): Show |
FRMD1 | ENSG00000153303.18 | transcript | ENST00000283309.11 | protein_coding | 1/10 | chr6 | TogoVar | ||||||
FRMD3_chr9_83239622_83543401 | 83357214 | AATATATA others(57): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00609.hp2 others(18): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0202a0001c0001t0001g0211a0001c0001t0001g0213others(18): Show | 21 | 242 | 0.0868 | -64 | c.296 others(81): Show |
FRMD3 | ENSG00000172159.16 | transcript | ENST00000304195.8 | protein_coding | 3/13 | chr9 | TogoVar | ||||||
FRMPD4_chrX_12133473_12729523 | 12193771 | AAAGGAAG others(57): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0117 | 1 | 174 | 0.0058 | -64 | c.41+ others(81): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FSD1_chr19_4299598_4328836 | 4328418 | CCAGCTCT others(57): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(173): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0009others(120): Show | 176 | 412 | 0.4272 | -64 | c.*47 others(75): Show |
FSD1 | ENSG00000105255.11 | transcript | ENST00000221856.11 | protein_coding | 4583 | chr19 | TogoVar | ||||||
FSHR_chr2_48957157_49159515 | 49127834 | TCTTCTTC others(57): Show |
T | intron_variant | MODIFIER | NA19090.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0303 | 1 | 350 | 0.0029 | -64 | c.152 others(83): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
FUT8_chr14_65407730_65749121 | 65611184 | TACACACA others(57): Show |
T | intron_variant | MODIFIER | HG01934.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0109a0001c0001t0005g0067 | 2 | 374 | 0.0054 | -64 | c.204 others(81): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FUT8_chr14_65407730_65749121 | 65611209 | GCGCGCGC others(57): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG02040.hp1 HG02074.hp1 others(14): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0004a0001c0010t0004 | a0001c0001t0004g0001a0001c0001t0004g0003a0001c0001t0004g0004others(14): Show | 17 | 374 | 0.0455 | -64 | c.204 others(81): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FUT8_chr14_65407730_65749121 | 65611211 | GCGCGCGC others(57): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0148a0001c0001t0006g0163 | 2 | 374 | 0.0054 | -64 | c.204 others(81): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FUT9_chr6_96010974_96220612 | 96035836 | TTAATATA others(57): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02630.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0003g0213a0001c0001t0003g0214a0001c0001t0005g0152others(2): Show | 5 | 320 | 0.0156 | -64 | c.-98 others(83): Show |
FUT9 | ENSG00000172461.11 | transcript | ENST00000302103.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FUT9_chr6_96010974_96220612 | 96035847 | TATTATGT others(57): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00642.hp2 others(118): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0095a0001c0001t0001g0102a0001c0001t0001g0115others(118): Show | 121 | 320 | 0.3781 | -64 | c.-98 others(83): Show |
FUT9 | ENSG00000172461.11 | transcript | ENST00000302103.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
G0S2_chr1_209670412_209681390 | 209671501 | ATTATGTG others(57): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0001a0001c0001t0010g0001 | 76 | 424 | 0.1793 | -64 | c.-40 others(75): Show |
G0S2 | ENSG00000123689.6 | transcript | ENST00000367029.5 | protein_coding | 3910 | chr1 | TogoVar | ||||||
GABRR2_chr6_89249464_89320299 | 89292522 | GATATATA others(57): Show |
G | intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0021 | 1 | 366 | 0.0027 | -64 | c.220 others(81): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | ||||||
GABRR2_chr6_89249464_89320299 | 89292553 | GATATATA others(57): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG01934.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0133a0001c0001t0001g0134others(10): Show | 14 | 366 | 0.0383 | -64 | c.220 others(81): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | ||||||
GABRR2_chr6_89249464_89320299 | 89292584 | GATATATA others(57): Show |
G | intron_variant | MODIFIER | HG03209.hp1 HG03471.hp1 NA18906.hp1 |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0009 | a0001c0001t0006a0002c0003t0014a0004c0009t0002 | a0001c0001t0006g0014a0002c0003t0014g0007a0004c0009t0002g0354 | 3 | 366 | 0.0082 | -64 | c.220 others(81): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | ||||||
GAK_chr4_844277_937316 | 887177 | CGTACACA others(57): Show |
C | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0105 | 1 | 390 | 0.0026 | -64 | c.120 others(83): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 11/27 | chr4 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805935 | CCTTCCCT others(57): Show |
C | downstream_gene_variant | MODIFIER | HG02135.hp1 HG02976.hp1 NA19088.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0002 | a0001c0001t0002g0176a0002c0002t0001g0046a0002c0002t0002g0252 | 3 | 314 | 0.0096 | -64 | c.*17 others(75): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1649 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805959 | GACCTCCT others(57): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00735.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0026a0001c0001t0001g0188a0001c0001t0001g0192others(12): Show | 16 | 314 | 0.0510 | -64 | c.*17 others(75): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1673 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241806165 | TCAGCCCA others(57): Show |
T | downstream_gene_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0129 | 1 | 314 | 0.0032 | -64 | c.*20 others(75): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1879 | chr2 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132304854 | CGGGCACA others(57): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 183 | 0.0055 | -64 | c.239 others(83): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GBE1_chr3_81484703_81766645 | 81750538 | CGTATATA others(57): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0258 | 1 | 304 | 0.0033 | -64 | c.143 others(83): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 1/15 | chr3 | TogoVar |