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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABLIM1_chr10_114426112_114663275 | 114601049 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0136 | 1 | 3 | 0.3333 | -18 | c.379 others(33): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114638622 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0110 | a0001c0002t0110g0157 | 1 | 21 | 0.0476 | -18 | c.244 others(37): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8091544 | AATATTTA others(11): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00639.hp1 others(60): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0086 others(60): Show |
63 | 316 | 0.1994 | -18 | c.339 others(35): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 3/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8093199 | GAATAATC others(11): Show |
G | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0197 | 1 | 320 | 0.0031 | -18 | c.338 others(35): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 3/20 | chr4 | TogoVar | |||||||
ABLIM3_chr5_149136493_149265542 | 149208378 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG02615.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0017others(2): Show | a0001c0001t0001g0018 a0001c0001t0004g0077 a0001c0001t0004g0091 others(7): Show |
10 | 256 | 0.0391 | -18 | c.575 others(35): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ABLIM3_chr5_149136493_149265542 | 149225976 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG02615.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 a0001c0001t0003g0108 a0001c0001t0003g0212 |
3 | 235 | 0.0128 | -18 | c.758 others(35): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ABLIM3_chr5_149136493_149265542 | 149225982 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 158 | 0.0063 | -18 | c.758 others(35): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 999323 | CTATATAT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp1 HG01123.hp1 HG01934.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0008 | a0001c0001t0003g0128 a0001c0001t0007g0318 a0001c0001t0007g0327 others(1): Show |
4 | 72 | 0.0556 | -18 | c.*67 others(29): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 4195 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1057305 | GGTTTGTG others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00609.hp1 others(98): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0067 others(98): Show |
101 | 194 | 0.5206 | -18 | c.138 others(35): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 12/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1057308 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02647.hp1 NA19043.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004a0001c0013 | a0001c0002t0008a0001c0002t0011a0001c0004t0048others(1): Show | a0001c0002t0008g0036 a0001c0002t0011g0229 a0001c0004t0048g0199 others(1): Show |
4 | 251 | 0.0159 | -18 | c.138 others(35): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 12/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1057649 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG01952.hp1 HG02109.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0014a0001c0001t0067 | a0001c0001t0008g0010 a0001c0001t0014g0096 a0001c0001t0067g0159 |
3 | 95 | 0.0316 | -18 | c.138 others(35): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 12/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1142942 | CAGCTCAC others(11): Show |
C | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0136 | 1 | 336 | 0.0030 | -18 | c.62- others(35): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1143038 | TTCCTGGG others(11): Show |
T | intron_variant | MODIFIER | HG02647.hp1 NA18962.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0006a0001c0013t0018 | a0001c0001t0006g0234 a0001c0013t0018g0107 |
2 | 335 | 0.0060 | -18 | c.62- others(35): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1143146 | TTCCTGGG others(11): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(169): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(71): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0067 others(169): Show |
172 | 336 | 0.5119 | -18 | c.62- others(35): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1143182 | CTCCTGGG others(11): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0013 | a0001c0013t0018 | a0001c0013t0018g0107 | 1 | 336 | 0.0030 | -18 | c.62- others(35): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1143200 | TTCCTGGG others(11): Show |
T | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0093 | 1 | 151 | 0.0066 | -18 | c.62- others(35): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1143210 | ACAGCTCG others(11): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01070.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0068 a0001c0001t0002g0083 a0001c0001t0006g0141 others(5): Show |
8 | 322 | 0.0248 | -18 | c.62- others(35): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1143254 | TTCCTGGG others(11): Show |
T | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0234 | 1 | 256 | 0.0039 | -18 | c.62- others(35): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1143362 | CTCCTGGG others(11): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01169.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0001g0225 a0001c0001t0004g0309 a0001c0001t0006g0093 others(12): Show |
15 | 331 | 0.0453 | -18 | c.62- others(35): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1143390 | ACAGCTCG others(11): Show |
A | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0234 | 1 | 335 | 0.0030 | -18 | c.62- others(35): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1143452 | CTCCTGGG others(11): Show |
C | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0234 | 1 | 215 | 0.0047 | -18 | c.62- others(35): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1143498 | GCAGCTCG others(11): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(90): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0067 others(90): Show |
93 | 334 | 0.2784 | -18 | c.62- others(35): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1143524 | CTCCTGGG others(11): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00544.hp2 others(75): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0081 a0001c0001t0001g0097 a0001c0001t0001g0123 others(75): Show |
78 | 336 | 0.2321 | -18 | c.62- others(35): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1146710 | CTGCCACT others(11): Show |
C | intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0207 | 1 | 336 | 0.0030 | -18 | c.62- others(35): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34209743 | GGGGGTAG others(11): Show |
G | intron_variant | MODIFIER | NA18994.hp1 NA19000.hp1 NA19002.hp1 others(1): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0011 | a0001c0001t0001a0002c0002t0002a0006c0011t0001 | a0001c0001t0001g0064 a0001c0001t0001g0103 a0002c0002t0002g0196 others(1): Show |
4 | 244 | 0.0164 | -18 | c.884 others(35): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107389834 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG02615.hp2 NA20129.hp1 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0014a0003c0008t0011 | a0001c0001t0014g0154 a0003c0008t0011g0153 |
2 | 178 | 0.0112 | -18 | c.113 others(39): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107464206 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG03579.hp2 |
a0001a0011 | a0001c0001a0011c0025 | a0001c0001t0002a0011c0025t0002 | a0001c0001t0002g0083 a0011c0025t0002g0079 |
2 | 9 | 0.2222 | -18 | c.113 others(39): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107481883 | GTCTCTCT others(11): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG01361.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0001a0002c0002t0004a0003c0004t0003others(6): Show | a0001c0001t0001g0037 a0002c0002t0004g0046 a0003c0004t0003g0035 others(10): Show |
13 | 29 | 0.4483 | -18 | c.113 others(39): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107528825 | CATGGTGA others(11): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0100 | 1 | 186 | 0.0054 | -18 | c.128 others(37): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107637786 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG02735.hp2 NA20905.hp2 |
a0001a0002 | a0001c0003a0002c0033 | a0001c0003t0002a0002c0033t0001 | a0001c0003t0002g0146 a0002c0033t0001g0053 |
2 | 20 | 0.1000 | -18 | c.273 others(37): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37119589 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01358.hp2 HG02647.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0030a0001c0004t0032 | a0001c0004t0005g0044 a0001c0004t0005g0125 a0001c0004t0005g0276 others(2): Show |
5 | 40 | 0.1250 | -18 | c.627 others(37): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 50/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37173982 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG03041.hp2 HG04204.hp1 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0003a0001c0001t0017a0001c0015t0001 | a0001c0001t0003g0052 a0001c0001t0017g0002 a0001c0015t0001g0148 |
3 | 244 | 0.0123 | -18 | c.507 others(37): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37202698 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0297 | 1 | 298 | 0.0034 | -18 | c.405 others(37): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 33/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37260284 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0230 | 1 | 243 | 0.0041 | -18 | c.133 others(35): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 11/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37268725 | CTATCTAT others(11): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp1 others(61): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 others(61): Show |
64 | 285 | 0.2246 | -18 | c.111 others(37): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 10/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37268729 | CTATCTAT others(11): Show |
C | intron_variant | MODIFIER | HG04228.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0016 | a0001c0001t0006g0207 a0001c0001t0016g0001 |
2 | 279 | 0.0072 | -18 | c.111 others(37): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 10/55 | chr17 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109167621 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02809.hp2 HG02976.hp1 others(3): Show |
a0001a0002a0007others(2): Show | a0001c0105a0001c0106a0002c0006others(3): Show | a0001c0105t0004a0001c0106t0001a0002c0006t0005others(3): Show | a0001c0105t0004g0293 a0001c0106t0001g0291 a0002c0006t0005g0292 others(3): Show |
6 | 97 | 0.0619 | -18 | c.787 others(33): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132641590 | AGAAGAAG others(11): Show |
A | intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0148 | 1 | 314 | 0.0032 | -18 | c.537 others(33): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | |||||||
ACADL_chr2_210182923_210230447 | 210184989 | GACACACA others(11): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0041 |
2 | 48 | 0.0417 | -18 | c.*39 others(29): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 2933 | chr2 | TogoVar | |||||||
ACADM_chr1_75719709_75768679 | 75737279 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 101 | 0.0099 | -18 | c.468 others(35): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75760544 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02895.hp1 HG02897.hp1 others(6): Show |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0283 a0001c0004t0005g0284 a0001c0004t0005g0285 others(6): Show |
9 | 30 | 0.3000 | -18 | c.946 others(33): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADSB_chr10_123004006_123063290 | 123045131 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02738.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0006 | a0001c0001t0001g0195 a0003c0004t0006g0160 |
2 | 252 | 0.0079 | -18 | c.900 others(33): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACADS_chr12_120720826_120745008 | 120733590 | AAATGGTG others(11): Show |
A | intron_variant | MODIFIER | HG01993.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0213 | 1 | 424 | 0.0024 | -18 | c.211 others(35): Show |
ACADS | ENSG00000122971.9 | transcript | ENST00000242592.9 | protein_coding | 2/9 | chr12 | TogoVar | |||||||
ACADS_chr12_120720826_120745008 | 120735995 | ATCCCTGT others(11): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01884.hp2 others(9): Show |
a0001a0004a0007 | a0001c0006a0004c0008a0007c0020 | a0001c0006t0005a0001c0006t0009a0001c0006t0011others(2): Show | a0001c0006t0005g0176 a0001c0006t0005g0178 a0001c0006t0005g0188 others(9): Show |
12 | 424 | 0.0283 | -18 | c.211 others(33): Show |
ACADS | ENSG00000122971.9 | transcript | ENST00000242592.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195424281 | ATATTTTT others(11): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG01928.hp2 HG01934.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0015 | a0001c0002t0004g0004 a0001c0002t0004g0024 a0001c0002t0004g0028 others(4): Show |
7 | 307 | 0.0228 | -18 | c.53+ others(35): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195424283 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00673.hp1 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0015others(1): Show | a0001c0002t0001g0043 a0001c0002t0004g0030 a0001c0002t0004g0034 others(22): Show |
25 | 100 | 0.2500 | -18 | c.53+ others(35): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1288204 | TGTGTCTC others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 272 | 0.0037 | -18 | c.*53 others(29): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4186 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1288275 | CCCCGAGT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 255 | 0.0039 | -18 | c.*52 others(29): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4115 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1288356 | TCTGCTCC others(11): Show |
T | downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 278 | 0.0036 | -18 | c.*51 others(29): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4034 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1288507 | CCCGTCCC others(11): Show |
C | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 143 | 0.0070 | -18 | c.*50 others(29): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3883 | chr1 | TogoVar |