view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B4GALT5_chr20_49627945_49718878 | 49664421 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG03710.hp2 HG03834.hp2 HG04115.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0044a0001c0003t0003 | a0001c0001t0044g0094 a0001c0003t0003g0135 a0001c0003t0003g0136 others(2): Show |
5 | 86 | 0.0581 | -12 | c.116 others(29): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49665440 | GTAATAAT others(5): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01358.hp1 NA18906.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0027a0001c0002t0001 | a0001c0001t0012g0092 a0001c0001t0012g0093 a0001c0001t0027g0098 others(3): Show |
6 | 192 | 0.0313 | -12 | c.116 others(29): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49694790 | TCCACGAG others(5): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG01358.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0022a0001c0001t0027others(3): Show | a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 others(10): Show |
13 | 362 | 0.0359 | -12 | c.115 others(31): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49699801 | GCTGAATT others(5): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00621.hp2 others(23): Show |
a0002 | a0002c0004 | a0002c0004t0005a0002c0004t0014a0002c0004t0031others(1): Show | a0002c0004t0005g0218 a0002c0004t0005g0219 a0002c0004t0005g0220 others(23): Show |
26 | 362 | 0.0718 | -12 | c.115 others(31): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49714245 | CTCATTCA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG03195.hp2 NA18906.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0091 a0001c0001t0012g0092 a0001c0001t0012g0093 |
3 | 360 | 0.0083 | -12 | c.-56 others(21): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 368 | chr20 | TogoVar | |||||||
B4GALT6_chr18_31617246_31689581 | 31629447 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0258 | 1 | 52 | 0.0192 | -12 | c.776 others(29): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 6/8 | chr18 | TogoVar | |||||||
BABAM1_chr19_17262443_17284337 | 17273552 | TTTGTTTG others(5): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG01346.hp1 HG01884.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0094 a0001c0001t0001g0149 others(2): Show |
9 | 422 | 0.0213 | -12 | c.345 others(27): Show |
BABAM1 | ENSG00000105393.16 | transcript | ENST00000598188.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28112143 | TTCTTTAC others(5): Show |
T | intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 151 | 0.0066 | -12 | c.571 others(31): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28115182 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG02074.hp1 HG02165.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0053 a0001c0001t0001g0111 a0001c0001t0001g0125 others(6): Show |
9 | 43 | 0.2093 | -12 | c.571 others(31): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28154439 | GTAAGGTG others(5): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0137 | 1 | 156 | 0.0064 | -12 | c.680 others(31): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28176569 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 5 | 0.2000 | -12 | c.680 others(31): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28267438 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(1): Show |
4 | 110 | 0.0364 | -12 | c.934 others(31): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BACE2_chr21_41163160_41287530 | 41224221 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0235 | 1 | 270 | 0.0037 | -12 | c.313 others(29): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | TogoVar | |||||||
BACE2_chr21_41163160_41287530 | 41286119 | TATAGATA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02723.hp1 HG03041.hp2 HG03139.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0009a0001c0001t0017a0001c0001t0020others(2): Show | a0001c0001t0009g0227 a0001c0001t0017g0269 a0001c0001t0020g0151 others(2): Show |
5 | 40 | 0.1250 | -12 | c.*10 others(25): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 3590 | chr21 | TogoVar | |||||||
BACH1_chr21_29293922_29351148 | 29306169 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0065 | 1 | 72 | 0.0139 | -12 | c.-61 others(29): Show |
BACH1 | ENSG00000156273.16 | transcript | ENST00000286800.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 89930114 | GACACACA others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02698.hp1 HG03669.hp1 |
a0001 | a0001c0002 | a0001c0002t0053a0001c0002t0083 | a0001c0002t0053g0040 a0001c0002t0083g0154 |
2 | 47 | 0.0426 | -12 | c.*22 others(23): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 9/9 | 2282 | chr6 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 89939656 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02965.hp2 HG02970.hp1 |
a0001a0004 | a0001c0002a0004c0010 | a0001c0002t0061a0001c0002t0069a0004c0010t0106 | a0001c0002t0061g0026 a0001c0002t0069g0087 a0004c0010t0106g0060 |
3 | 47 | 0.0638 | -12 | c.183 others(31): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 7/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 89949440 | TCCTCTGC others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00735.hp2 others(31): Show |
a0001 | a0001c0001a0001c0006a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0001g0101 a0001c0001t0001g0141 a0001c0001t0003g0029 others(31): Show |
34 | 192 | 0.1771 | -12 | c.183 others(29): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 7/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 89959097 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG01261.hp2 HG02602.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0012a0001c0001t0096a0001c0001t0137others(4): Show | a0001c0001t0012g0050 a0001c0001t0096g0108 a0001c0001t0137g0194 others(4): Show |
7 | 21 | 0.3333 | -12 | c.244 others(29): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 89997005 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | NA18966.hp2 NA19088.hp1 NA19090.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0011a0001c0002t0104a0001c0003t0111 | a0001c0001t0011g0091 a0001c0002t0104g0140 a0001c0003t0111g0118 |
3 | 39 | 0.0769 | -12 | c.243 others(31): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90011930 | ATATGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG02602.hp2 HG02622.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0058a0001c0001t0084a0001c0001t0137others(6): Show | a0001c0001t0058g0080 a0001c0001t0084g0021 a0001c0001t0137g0194 others(6): Show |
9 | 171 | 0.0526 | -12 | c.-12 others(29): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90011932 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0114 | a0001c0001t0114g0132 | 1 | 73 | 0.0137 | -12 | c.-12 others(29): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90014436 | GTGTGTAT others(5): Show |
G | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0092 | 1 | 189 | 0.0053 | -12 | c.-12 others(29): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90043494 | CCCTCCCT others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG01167.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(10): Show | a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0008g0103 others(11): Show |
14 | 192 | 0.0729 | -12 | c.-12 others(31): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90102791 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02717.hp1 HG04204.hp1 |
a0001 | a0001c0003 | a0001c0003t0013a0001c0003t0085a0001c0003t0109 | a0001c0003t0013g0046 a0001c0003t0085g0090 a0001c0003t0109g0056 |
3 | 62 | 0.0484 | -12 | c.-16 others(33): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90146210 | AAGTGATG others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG03834.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0044a0001c0004t0043 | a0001c0001t0044g0164 a0001c0004t0043g0169 |
2 | 192 | 0.0104 | -12 | c.-16 others(33): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90210312 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0013 | a0001c0013t0124 | a0001c0013t0124g0190 | 1 | 37 | 0.0270 | -12 | c.-27 others(31): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 3/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90211588 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01109.hp1 HG01167.hp1 others(13): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0041others(11): Show | a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0008g0061 others(13): Show |
16 | 60 | 0.2667 | -12 | c.-27 others(31): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 3/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90239798 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00639.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0002g0045 a0001c0001t0003g0047 a0001c0001t0003g0053 others(24): Show |
27 | 58 | 0.4655 | -12 | c.-27 others(33): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 3/8 | chr6 | TogoVar | |||||||
BAD_chr11_64264830_64289665 | 64270975 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0078 a0001c0001t0002g0273 |
2 | 122 | 0.0164 | -12 | c.378 others(27): Show |
BAD | ENSG00000002330.14 | transcript | ENST00000309032.8 | protein_coding | 3/3 | chr11 | TogoVar | |||||||
BAD_chr11_64264830_64289665 | 64271207 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG02523.hp2 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 a0001c0001t0003g0064 |
2 | 60 | 0.0333 | -12 | c.378 others(27): Show |
BAD | ENSG00000002330.14 | transcript | ENST00000309032.8 | protein_coding | 3/3 | chr11 | TogoVar | |||||||
BAD_chr11_64264830_64289665 | 64271294 | TCTCACAC others(5): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01071.hp1 HG01433.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0024 others(11): Show |
19 | 113 | 0.1681 | -12 | c.378 others(27): Show |
BAD | ENSG00000002330.14 | transcript | ENST00000309032.8 | protein_coding | 3/3 | chr11 | TogoVar | |||||||
BAG3_chr10_119646380_119682819 | 119665118 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 418 | 0.0024 | -12 | c.181 others(29): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BAG4_chr8_38171855_38218301 | 38201834 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02683.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0024 | a0001c0001t0001g0161 a0001c0001t0001g0190 a0001c0001t0004g0134 others(1): Show |
4 | 245 | 0.0163 | -12 | c.379 others(29): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BAG6_chr6_31634028_31657661 | 31652320 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 147 | 0.0068 | -12 | c.-14 others(26): Show |
BAG6 | ENSG00000204463.14 | transcript | ENST00000676615.2 | protein_coding | 1/25 | chr6 | TogoVar | |||||||
BAHCC1_chr17_81390457_81471331 | 81411474 | CCCTGCCT others(5): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0036 | a0036c0045 | a0036c0045t0004 | a0036c0045t0004g0273 | 1 | 201 | 0.0050 | -12 | c.178 others(31): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81411506 | GCCTGCCT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 | a0020 | a0020c0038 | a0020c0038t0002 | a0020c0038t0002g0143 | 1 | 315 | 0.0032 | -12 | c.178 others(31): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81411510 | GCCTGCCT others(5): Show |
G | intron_variant | MODIFIER | HG02965.hp2 HG06807.hp2 |
a0002a0007 | a0002c0008a0007c0007 | a0002c0008t0024a0007c0007t0001 | a0002c0008t0024g0248 a0007c0007t0001g0257 |
2 | 325 | 0.0062 | -12 | c.178 others(31): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81411514 | GCCTTCCT others(5): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG01891.hp2 others(17): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0043a0002c0003others(11): Show | a0001c0001t0001a0001c0043t0001a0002c0003t0003others(11): Show | a0001c0001t0001g0108 a0001c0001t0001g0276 a0001c0001t0001g0326 others(17): Show |
20 | 182 | 0.1099 | -12 | c.178 others(31): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81425236 | TTGGGGGT others(5): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02257.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0004a0003c0002t0013 | a0001c0001t0001g0169 a0001c0001t0001g0174 a0003c0002t0004g0170 others(4): Show |
7 | 330 | 0.0212 | -12 | c.179 others(29): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81456347 | CGTGGCCC others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG02258.hp1 | a0032 | a0032c0040 | a0032c0040t0002 | a0032c0040t0002g0268 | 1 | 330 | 0.0030 | -12 | c.462 others(21): Show |
p.His others(15): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 16/28 | 5014/10726 | 4629/7827 | 1543/2608 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
BAHD1_chr15_40435953_40473236 | 40436213 | AGCTCCCG others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(184): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(121): Show |
187 | 370 | 0.5054 | -12 | c.-50 others(23): Show |
BAHD1 | ENSG00000140320.12 | transcript | ENST00000416165.6 | protein_coding | 4739 | chr15 | TogoVar | |||||||
BAHD1_chr15_40435953_40473236 | 40447560 | GAATAAAT others(5): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00738.hp2 HG01070.hp1 others(29): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0007 a0001c0001t0002g0043 a0001c0001t0002g0067 others(21): Show |
32 | 63 | 0.5079 | -12 | c.-15 others(29): Show |
BAHD1 | ENSG00000140320.12 | transcript | ENST00000416165.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BAHD1_chr15_40435953_40473236 | 40448322 | GTACATCT others(5): Show |
G | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 370 | 0.0027 | -12 | c.-15 others(29): Show |
BAHD1 | ENSG00000140320.12 | transcript | ENST00000416165.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98302588 | GGGAACGC others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(75): Show |
a0001a0003a0004others(1): Show | a0001c0003a0001c0004a0001c0005others(4): Show | a0001c0003t0003a0001c0003t0010a0001c0003t0015others(9): Show | a0001c0003t0003g0084 a0001c0003t0003g0094 a0001c0003t0003g0096 others(74): Show |
78 | 296 | 0.2635 | -12 | c.142 others(31): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 12/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98332382 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0030 |
2 | 81 | 0.0247 | -12 | c.215 others(31): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 3/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98375751 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0072 | 1 | 296 | 0.0034 | -12 | c.52- others(29): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98405322 | ATGCTTGC others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00621.hp2 HG01243.hp1 HG01261.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0002g0021 a0001c0001t0002g0150 a0001c0001t0004g0153 others(14): Show |
17 | 240 | 0.0708 | -12 | c.-44 others(23): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 4233 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98405336 | GCTTGCTT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG01361.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0229 a0001c0001t0004g0191 a0001c0002t0001g0206 others(7): Show |
10 | 281 | 0.0356 | -12 | c.-44 others(23): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 4247 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98405340 | GCTTGCTT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02083.hp1 HG02970.hp1 HG06807.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0253 a0001c0002t0001g0218 a0001c0002t0001g0228 others(4): Show |
7 | 264 | 0.0265 | -12 | c.-45 others(23): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 4251 | chr7 | TogoVar |