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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN7_chr3_63858867_64008462 | 63912684 | GGCAGCAG others(2): Show |
G | disruptive_inframe_deletion | MODERATE | HG02895.hp2 HG03041.hp1 NA18945.hp2 others(6): Show |
a0007a0015a0020 | a0007c0008a0015c0037a0015c0038others(1): Show | a0007c0008t0002a0007c0008t0028a0015c0037t0030others(2): Show | a0007c0008t0002g0211a0007c0008t0002g0229a0007c0008t0002g0289others(6): Show | 9 | 300 | 0.0300 | -9 | c.110 others(16): Show |
p.Gln others(11): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 3/13 | 512/7076 | 110/2679 | 37/892 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
AUNIP_chr1_25829006_25864457 | 25843594 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0017a0001c0001t0009g0038a0001c0001t0009g0039others(2): Show | 6 | 352 | 0.0171 | -9 | c.79- others(24): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
AUNIP_chr1_25829006_25864457 | 25862012 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(24): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0012a0001c0001t0003g0016a0001c0001t0003g0033others(18): Show | 27 | 352 | 0.0767 | -9 | c.-26 others(20): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 2556 | chr1 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70010876 | TAGAAATT others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02886.hp2 HG03540.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0009a0001c0003t0027a0002c0002t0031 | a0001c0001t0009g0006a0001c0001t0009g0008a0001c0003t0027g0009others(1): Show | 4 | 76 | 0.0526 | -9 | c.523 others(30): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70117108 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01884.hp1 others(9): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0026a0001c0001t0001g0071a0001c0001t0001g0074others(9): Show | 12 | 76 | 0.1579 | -9 | c.523 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70585867 | TATATGTA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01081.hp2 others(24): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0030a0001c0001t0001g0073a0001c0001t0001g0074others(24): Show | 27 | 76 | 0.3553 | -9 | c.691 others(30): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70609956 | TTTTTTGT others(2): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG02257.hp1 HG02257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0030a0001c0001t0004g0048a0001c0001t0004g0056others(3): Show | 6 | 76 | 0.0790 | -9 | c.691 others(28): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70609959 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG00741.hp2 HG01081.hp2 others(22): Show |
a0001a0002a0005 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0026a0001c0001t0001g0033a0001c0001t0001g0044others(22): Show | 25 | 76 | 0.3290 | -9 | c.691 others(28): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70739003 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(23): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0030a0001c0001t0001g0033a0001c0001t0001g0036others(23): Show | 26 | 76 | 0.3421 | -9 | c.743 others(28): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70784742 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG01243.hp1 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0002g0045a0001c0001t0002g0047a0001c0001t0002g0052others(22): Show | 25 | 76 | 0.3290 | -9 | c.214 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70796445 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00741.hp2 HG02630.hp2 HG03540.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0016a0001c0003t0008others(2): Show | a0001c0001t0001g0044a0001c0001t0016g0002a0001c0003t0008g0069others(2): Show | 5 | 76 | 0.0658 | -9 | c.*54 others(20): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2940 | chr7 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33899460 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01515.hp1 HG01515.hp2 others(7): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0005 | a0001c0001t0001a0001c0001t0002a0003c0003t0003others(1): Show | a0001c0001t0001g0033a0001c0001t0001g0144a0001c0001t0001g0170others(7): Show | 10 | 266 | 0.0376 | -9 | c.446 others(28): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 34004316 | CACAATGT others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02717.hp1 others(4): Show |
a0001a0004a0011 | a0001c0001a0004c0004a0011c0008 | a0001c0001t0001a0004c0004t0001a0011c0008t0001 | a0001c0001t0001g0185a0001c0001t0001g0186a0001c0001t0001g0187others(4): Show | 7 | 266 | 0.0263 | -9 | c.268 others(26): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 34029517 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(45): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0121a0001c0001t0001g0136a0001c0001t0001g0151others(45): Show | 48 | 266 | 0.1805 | -9 | c.267 others(26): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32540871 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG02615.hp2 HG02630.hp2 others(11): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0022others(9): Show | a0001c0001t0004g0013a0001c0001t0004g0023a0001c0001t0007g0015others(11): Show | 14 | 330 | 0.0424 | -9 | c.94- others(24): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVPI1_chr10_97672424_97692241 | 97678922 | TGTGTGTG others(2): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG01928.hp1 HG02040.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0183a0001c0001t0001g0288 | 5 | 446 | 0.0112 | -9 | c.287 others(24): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179449988 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01261.hp1 HG02145.hp1 others(12): Show |
a0001a0002 | a0001c0002a0001c0011a0002c0001 | a0001c0002t0001a0001c0011t0001a0002c0001t0001 | a0001c0002t0001g0100a0001c0002t0001g0128a0001c0002t0001g0152others(12): Show | 15 | 356 | 0.0421 | -9 | c.179 others(28): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179459704 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(103): Show |
a0001a0002a0007others(6): Show | a0001c0002a0001c0007a0001c0011others(9): Show | a0001c0002t0001a0001c0007t0001a0001c0011t0001others(9): Show | a0001c0002t0001g0081a0001c0002t0001g0082a0001c0002t0001g0083others(103): Show | 106 | 356 | 0.2978 | -9 | c.179 others(28): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179482098 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(164): Show |
a0001a0002a0005others(5): Show | a0001c0002a0001c0006a0001c0007others(13): Show | a0001c0002t0001a0001c0006t0001a0001c0007t0001others(13): Show | a0001c0002t0001g0083a0001c0002t0001g0084a0001c0002t0001g0088others(164): Show | 167 | 356 | 0.4691 | -9 | c.199 others(28): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179488632 | CTCCTTTC others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01257.hp1 HG01361.hp1 others(13): Show |
a0001a0002a0012others(2): Show | a0001c0002a0002c0001a0012c0014others(2): Show | a0001c0002t0001a0002c0001t0001a0012c0014t0001others(2): Show | a0001c0002t0001g0089a0001c0002t0001g0111a0001c0002t0001g0115others(13): Show | 16 | 356 | 0.0449 | -9 | c.209 others(28): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179513824 | CTTCTAGG others(2): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01433.hp2 HG01496.hp1 others(10): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0298a0004c0005t0001g0299a0004c0005t0001g0300others(10): Show | 13 | 356 | 0.0365 | -9 | c.249 others(28): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXIN1_chr16_282440_357723 | 282903 | TCCCCTGC others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0031a0001c0001t0049others(12): Show | a0001c0001t0001g0333a0001c0001t0001g0354a0001c0001t0001g0359others(22): Show | 26 | 378 | 0.0688 | -9 | c.*52 others(20): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 4536 | chr16 | TogoVar | ||||||
AXIN2_chr17_65523563_65566648 | 65551300 | TAAAGGGA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(397): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0003a0001c0004others(26): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(52): Show | a0001c0002t0001g0006a0001c0002t0001g0014a0001c0002t0001g0015others(318): Show | 400 | 402 | 0.9950 | -9 | c.816 others(26): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 2/10 | chr17 | TogoVar | ||||||
AXIN2_chr17_65523563_65566648 | 65555538 | TTACTAAT others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG03516.hp2 NA19240.hp1 |
a0001a0006 | a0001c0003a0006c0015 | a0001c0003t0001a0006c0015t0011 | a0001c0003t0001g0254a0006c0015t0011g0252a0006c0015t0011g0253 | 3 | 402 | 0.0075 | -9 | c.815 others(26): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 2/10 | chr17 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 833243 | GATAATAA others(2): Show |
G | downstream_gene_variant | MODIFIER | HG01175.hp2 HG01358.hp1 HG02027.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0074a0001c0002t0001g0002others(3): Show | 14 | 391 | 0.0358 | -9 | c.*13 others(20): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1226 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 833272 | TAATAATA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01952.hp2 HG02109.hp1 HG02897.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0022others(3): Show | 8 | 391 | 0.0205 | -9 | c.*13 others(20): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1255 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 833275 | TAATAAGA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01106.hp2 HG01891.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0002t0001a0002c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0034a0001c0002t0001g0002others(4): Show | 11 | 391 | 0.0281 | -9 | c.*13 others(20): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1258 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 833278 | TAAGAAGA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00597.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0034others(10): Show | 20 | 391 | 0.0512 | -9 | c.*14 others(20): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1261 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 833312 | AAGAAGAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02965.hp2 HG03486.hp1 HG03540.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0077a0001c0009t0001g0008 | 3 | 391 | 0.0077 | -9 | c.*14 others(20): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1295 | chr19 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235474972 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01257.hp1 HG01358.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0021others(2): Show | a0001c0001t0004g0207a0001c0001t0004g0237a0001c0001t0004g0243others(6): Show | 9 | 344 | 0.0262 | -9 | c.652 others(26): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235474974 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG02897.hp1 HG02976.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0005a0002c0003t0056 | a0001c0001t0004g0233a0002c0003t0005g0219a0002c0003t0005g0227others(1): Show | 4 | 344 | 0.0116 | -9 | c.652 others(26): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235480905 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02135.hp1 HG02300.hp2 HG02976.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0110a0001c0001t0001g0130a0001c0001t0001g0131others(7): Show | 10 | 344 | 0.0291 | -9 | c.556 others(24): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235498843 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG01106.hp2 others(31): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006a0001c0002t0008others(9): Show | a0001c0002t0003g0307a0001c0002t0006g0304a0001c0002t0006g0308others(29): Show | 34 | 344 | 0.0988 | -9 | c.113 others(26): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167325702 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02040.hp1 NA18612.hp2 NA18948.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(1): Show | a0001c0001t0001g0015a0001c0001t0004g0013a0001c0001t0004g0014others(2): Show | 5 | 118 | 0.0424 | -9 | c.-51 others(30): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167352271 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG00738.hp2 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0003a0001c0001t0001g0046a0001c0001t0001g0062others(42): Show | 45 | 118 | 0.3814 | -9 | c.-51 others(30): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167389908 | CCAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0018a0001c0001t0015g0079 | 2 | 118 | 0.0170 | -9 | c.-51 others(30): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167497247 | GCAACGGT others(2): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG02886.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0029a0001c0001t0003g0112a0001c0001t0006g0040others(5): Show | 8 | 118 | 0.0678 | -9 | c.-41 others(28): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT6_chr1_1227237_1240041 | 1231710 | CCCCCGGG others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(60): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0003a0001c0002t0018others(9): Show | a0001c0002t0001g0000a0001c0002t0003g0000a0001c0002t0018g0000others(9): Show | 63 | 366 | 0.1721 | -9 | c.-56 others(18): Show |
B3GALT6 | ENSG00000176022.7 | transcript | ENST00000379198.5 | protein_coding | 526 | chr1 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83045894 | AGAGATCG others(2): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02451.hp2 others(9): Show |
a0001a0003a0004 | a0001c0011a0001c0029a0003c0030others(1): Show | a0001c0011t0001a0001c0011t0010a0001c0011t0011others(6): Show | a0001c0011t0001g0144a0001c0011t0010g0146a0001c0011t0010g0147others(9): Show | 12 | 266 | 0.0451 | -9 | c.232 others(26): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 3/12 | chr17 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33111270 | AAAAAAAA others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG01070.hp1 HG01099.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0035a0001c0001t0053others(2): Show | a0001c0001t0003g0001a0001c0001t0003g0013a0001c0001t0003g0044others(31): Show | 36 | 366 | 0.0984 | -9 | c.*21 others(20): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 6/6 | 2175 | chr9 | TogoVar | |||||
B4GALT1_chr9_33105642_33172336 | 33152361 | TAACATAA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00733.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0316a0001c0001t0003g0001a0001c0001t0003g0300others(37): Show | 43 | 366 | 0.1175 | -9 | c.412 others(28): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT2_chr1_43974210_43996168 | 43979336 | CGCGGCGG others(2): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00642.hp1 others(42): Show |
a0000a0002 | a0000c0007a0002c0002a0002c0003 | a0000c0007t0003a0002c0002t0003a0002c0003t0003 | a0000c0007t0003g0008a0002c0002t0003g0002a0002c0002t0003g0008others(20): Show | 45 | 406 | 0.1108 | -9 | c.-20 others(18): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 1/7 | 1797 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
B4GALT5_chr20_49627945_49718878 | 49665440 | GTAATAAT others(2): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00621.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(5): Show | a0001c0001t0002g0029a0001c0001t0002g0063a0001c0001t0004g0188others(25): Show | 28 | 364 | 0.0769 | -9 | c.116 others(26): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
B4GALT6_chr18_31617246_31689581 | 31629447 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG01496.hp2 HG01884.hp2 others(12): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0011others(4): Show | a0001c0001t0003g0155a0001c0001t0008g0042a0001c0001t0008g0218others(12): Show | 15 | 306 | 0.0490 | -9 | c.776 others(26): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 6/8 | chr18 | TogoVar | ||||||
BAALC_chr8_103135725_103235305 | 103139868 | TGAAGGCT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0008a0001c0001t0002g0034a0001c0001t0006g0033 | 4 | 332 | 0.0121 | -9 | c.-10 others(20): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 856 | chr8 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28205434 | TAGAGGTC others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00735.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0052others(11): Show | 14 | 158 | 0.0886 | -9 | c.681 others(28): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28231785 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02280.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0055a0001c0001t0001g0133a0001c0001t0001g0134others(5): Show | 8 | 158 | 0.0506 | -9 | c.681 others(26): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BACH2_chr6_89921528_90301843 | 89978633 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02486.hp2 HG02647.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0017a0001c0002t0004a0001c0004t0004others(3): Show | a0001c0001t0017g0035a0001c0001t0017g0085a0001c0002t0004g0082others(5): Show | 8 | 194 | 0.0412 | -9 | c.244 others(28): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 6/8 | chr6 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90009149 | TTTAAAAC others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01069.hp2 HG01081.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(8): Show | a0001c0001t0001g0141a0001c0001t0008g0103a0001c0001t0013g0049others(8): Show | 11 | 194 | 0.0567 | -9 | c.-12 others(24): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90102791 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01109.hp1 others(16): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(13): Show | a0001c0001t0001g0100a0001c0001t0001g0139a0001c0001t0001g0141others(16): Show | 19 | 194 | 0.0979 | -9 | c.-16 others(30): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar |