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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC4_chr13_95014835_95306451 | 95064260 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0007 | a0001c0007t0019 | a0001c0007t0019g0026 | 1 | 248 | 0.0040 | -20 | c.321 others(39): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 25/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95157111 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02886.hp1 HG02922.hp2 others(3): Show |
a0001a0002 | a0001c0009a0001c0024a0001c0026others(3): Show | a0001c0009t0001a0001c0024t0006a0001c0026t0005others(3): Show | a0001c0009t0001g0047a0001c0024t0006g0032a0001c0026t0005g0050others(3): Show | 6 | 248 | 0.0242 | -20 | c.245 others(39): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95196582 | GAGGAAGG others(13): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0026 | a0001c0026t0005 | a0001c0026t0005g0050 | 1 | 248 | 0.0040 | -20 | c.116 others(39): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 8/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95225147 | TCTCTCTC others(13): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp2 HG01255.hp1 others(44): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0011others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(25): Show | a0001c0001t0001g0211a0001c0001t0002g0106a0001c0002t0001g0109others(44): Show | 47 | 248 | 0.1895 | -20 | c.531 others(37): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 4/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95225149 | TCTCTCAC others(13): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(30): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0014a0001c0017others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0007others(16): Show | a0001c0001t0001g0064a0001c0001t0001g0083a0001c0001t0001g0084others(30): Show | 33 | 248 | 0.1331 | -20 | c.531 others(37): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 4/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95244596 | TGAAAGAA others(13): Show |
T | intron_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0146 | 1 | 248 | 0.0040 | -20 | c.306 others(37): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 3/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95296165 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0119 | 1 | 248 | 0.0040 | -20 | c.74+ others(35): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | ||||||
ABCC5_chr3_183914934_184022884 | 183922035 | TAATAAAT others(13): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(136): Show |
a0001a0005a0008 | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0008others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0019a0001c0001t0001g0021others(133): Show | 139 | 378 | 0.3677 | -20 | c.421 others(37): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 29/29 | chr3 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17414305 | TCCCCTAT others(13): Show |
T | intron_variant | MODIFIER | HG02886.hp2 | a0003 | a0003c0036 | a0003c0036t0001 | a0003c0036t0001g0045 | 1 | 330 | 0.0030 | -20 | c.239 others(37): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 19/38 | chr11 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21816036 | GTTTTTTT others(13): Show |
G | intron_variant | MODIFIER | HG02647.hp2 HG02976.hp2 HG03139.hp1 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0007a0001c0006t0005 | a0001c0003t0007g0180a0001c0003t0007g0204a0001c0006t0005g0192 | 3 | 212 | 0.0142 | -20 | c.389 others(37): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 33/39 | chr12 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94438282 | TCACACAC others(13): Show |
T | intron_variant | MODIFIER | HG03209.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0016 | 2 | 362 | 0.0055 | -20 | c.110 others(39): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42283246 | CTTGGGCC others(13): Show |
C | intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 354 | 0.0028 | -20 | c.734 others(35): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 6/14 | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42295333 | TAAAAAAA others(13): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01257.hp1 HG01258.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0156a0001c0001t0002g0090a0001c0001t0002g0273others(17): Show | 21 | 354 | 0.0593 | -20 | c.177 others(37): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG4_chr11_119144052_119167653 | 119147464 | GGAAAGAA others(13): Show |
G | upstream_gene_variant | MODIFIER | HG01978.hp1 HG03471.hp1 HG03516.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0014others(2): Show | 13 | 388 | 0.0335 | -20 | c.-19 others(31): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1587 | chr11 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43839403 | CTTTTTTT others(13): Show |
C | upstream_gene_variant | MODIFIER | HG01168.hp1 HG01192.hp1 HG01243.hp1 others(12): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0015others(2): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(4): Show | a0001c0001t0001g0008a0001c0001t0001g0138a0001c0001t0001g0139others(12): Show | 15 | 330 | 0.0455 | -20 | c.-74 others(29): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 565 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43839403 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01192.hp1 HG02895.hp2 others(4): Show |
a0002a0003a0005 | a0002c0004a0003c0002a0003c0010others(1): Show | a0002c0004t0011a0003c0002t0028a0003c0002t0101others(3): Show | a0002c0004t0011g0042a0003c0002t0028g0041a0003c0002t0101g0040others(4): Show | 7 | 318 | 0.0220 | -20 | c.63+ others(33): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43870208 | TCTCACTG others(13): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02976.hp2 HG03516.hp2 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0012a0002c0003t0111a0002c0004t0008 | a0002c0003t0012g0177a0002c0003t0111g0178a0002c0004t0008g0213 | 3 | 318 | 0.0094 | -20 | c.965 others(37): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50870971 | GAAAGAAA others(13): Show |
G | upstream_gene_variant | MODIFIER | HG02559.hp1 HG03195.hp2 NA19240.hp1 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0039a0004c0007t0001g0002 | 3 | 376 | 0.0080 | -20 | c.-12 others(31): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1081 | chr14 | TogoVar | ||||||
ABHD14A_chr3_51970064_51986196 | 51981894 | CAAAAAAA others(13): Show |
C | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01106.hp2 HG01123.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0017 | 19 | 344 | 0.0552 | -20 | c.*87 others(29): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 699 | chr3 | TogoVar | ||||||
ABHD17A_chr19_1871810_1890496 | 1876222 | GACGCAGC others(13): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 416 | 0.0024 | -20 | c.*95 others(29): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 587 | chr19 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80697885 | CCTCATGT others(13): Show |
C | intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0311 | 1 | 360 | 0.0028 | -20 | c.590 others(37): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89115367 | GGTATGTG others(13): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02258.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0015others(11): Show | 14 | 234 | 0.0598 | -20 | c.-6- others(33): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD5_chr3_43685938_43727725 | 43696034 | TTGCCTTG others(13): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0172 | 1 | 286 | 0.0035 | -20 | c.48- others(35): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58264387 | GCACACAC others(13): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01256.hp1 HG01943.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005a0001c0001t0001g0061a0001c0001t0001g0063others(4): Show | 8 | 302 | 0.0265 | -20 | c.120 others(37): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABI1_chr10_26741596_26865958 | 26857320 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(119): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0019others(119): Show | 122 | 358 | 0.3408 | -20 | c.117 others(37): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203338924 | GTGTGTAT others(13): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0185 | 1 | 320 | 0.0031 | -20 | c.117 others(39): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203338926 | GTGTATAT others(13): Show |
G | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210 | 1 | 320 | 0.0031 | -20 | c.117 others(39): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203338943 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02895.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0025a0001c0001t0002g0026a0001c0001t0002g0084others(7): Show | 10 | 320 | 0.0313 | -20 | c.117 others(39): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI3BP_chr3_100744156_100998421 | 100830106 | CATACATA others(13): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp1 |
a0005a0014 | a0005c0011a0014c0047 | a0005c0011t0026a0014c0047t0010 | a0005c0011t0026g0138a0014c0047t0010g0133 | 2 | 238 | 0.0084 | -20 | c.245 others(37): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 32/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100885483 | ACAATGCA others(13): Show |
A | intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0206 | 1 | 238 | 0.0042 | -20 | c.696 others(33): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 6/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100956214 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0008 | a0002c0008t0019 | a0002c0008t0019g0144 | 1 | 238 | 0.0042 | -20 | c.80- others(37): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 1/67 | chr3 | TogoVar | ||||||
ABL1_chr9_130830254_130892675 | 130859668 | CTTTCTTT others(13): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0004 | a0001c0004t0022 | a0001c0004t0022g0020 | 1 | 278 | 0.0036 | -20 | c.550 others(37): Show |
ABL1 | ENSG00000097007.20 | transcript | ENST00000318560.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ABL2_chr1_179094330_179234677 | 179156882 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02109.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0003a0002c0005t0022 | a0001c0001t0003g0094a0002c0005t0022g0253a0002c0005t0022g0275others(2): Show | 5 | 350 | 0.0143 | -20 | c.158 others(39): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114500731 | AGGAAGGG others(13): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0004 | a0004c0023 | a0004c0023t0012 | a0004c0023t0012g0134 | 1 | 256 | 0.0039 | -20 | c.895 others(37): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 6/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114512835 | GGAAGGAA others(13): Show |
G | intron_variant | MODIFIER | HG01517.hp2 HG01884.hp2 HG02451.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0089a0001c0001t0100a0001c0001t0142others(1): Show | a0001c0001t0089g0118a0001c0001t0100g0246a0001c0001t0142g0108others(1): Show | 4 | 256 | 0.0156 | -20 | c.895 others(39): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 6/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114583404 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0017 | 1 | 256 | 0.0039 | -20 | c.380 others(37): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114583460 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG03098.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0012a0001c0002t0056others(1): Show | a0001c0002t0008g0117a0001c0002t0012g0245a0001c0002t0056g0123others(1): Show | 4 | 256 | 0.0156 | -20 | c.380 others(37): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114583462 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0081 | 1 | 256 | 0.0039 | -20 | c.380 others(37): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114601049 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00544.hp1 others(27): Show |
a0001a0004a0005 | a0001c0001a0004c0008a0005c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0086a0001c0001t0001g0244a0001c0001t0003g0064others(27): Show | 30 | 256 | 0.1172 | -20 | c.379 others(35): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114638622 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp1 HG02717.hp2 others(6): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0027a0001c0002t0020a0001c0002t0033others(6): Show | a0001c0001t0027g0158a0001c0002t0020g0154a0001c0002t0033g0012others(6): Show | 9 | 256 | 0.0352 | -20 | c.244 others(39): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114649400 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG02258.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0087a0001c0002t0071a0001c0002t0085others(2): Show | a0001c0001t0087g0019a0001c0002t0071g0138a0001c0002t0085g0161others(2): Show | 5 | 256 | 0.0195 | -20 | c.244 others(37): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 8066360 | GGGAAGGA others(13): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01071.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0013a0001c0001t0001g0050a0001c0001t0001g0073others(11): Show | 14 | 322 | 0.0435 | -20 | c.676 others(37): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 6/20 | chr4 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 8145745 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0002 | a0001c0001t0012g0008a0001c0002t0002g0129 | 2 | 322 | 0.0062 | -20 | c.10+ others(37): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 1/20 | chr4 | TogoVar | ||||||
ABLIM3_chr5_149136493_149265542 | 149208388 | ATTTCTCT others(13): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(101): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0029others(100): Show | 104 | 258 | 0.4031 | -20 | c.575 others(37): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ABLIM3_chr5_149136493_149265542 | 149225974 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG01515.hp2 HG03688.hp1 NA18747.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100a0001c0001t0002g0158a0001c0001t0002g0174others(1): Show | 4 | 258 | 0.0155 | -20 | c.758 others(37): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ABLIM3_chr5_149136493_149265542 | 149225976 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG02698.hp2 HG02717.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005a0001c0001t0003g0006a0001c0001t0003g0007others(8): Show | 11 | 258 | 0.0426 | -20 | c.758 others(37): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ABLIM3_chr5_149136493_149265542 | 149248859 | GACACACA others(13): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp1 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0016 | a0001c0001t0001g0002a0001c0001t0001g0054a0001c0001t0002g0001others(73): Show | 77 | 258 | 0.2985 | -20 | c.170 others(37): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ABR_chr17_998519_1184981 | 1057305 | GGTTTGTG others(13): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(50): Show |
a0001a0003 | a0001c0001a0003c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0056a0001c0001t0001g0063a0001c0001t0001g0064others(50): Show | 53 | 337 | 0.1573 | -20 | c.138 others(37): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 12/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1057649 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(238): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(74): Show | a0001c0001t0001g0054a0001c0001t0001g0056a0001c0001t0001g0061others(238): Show | 241 | 337 | 0.7151 | -20 | c.138 others(37): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 12/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1079788 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00621.hp1 others(52): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0001g0124a0001c0001t0001g0133a0001c0001t0001g0158others(52): Show | 55 | 337 | 0.1632 | -20 | c.640 others(35): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 5/22 | chr17 | TogoVar |