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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACMSD_chr2_134833616_134907034 | 134863809 | TC | T | intron_variant | MODIFIER | HG02486.hp1 HG02965.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0148 a0001c0001t0001g0149 others(2): Show |
6 | 380 | 0.0158 | -1 | c.486 others(8): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134869041 | GC | G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00609.hp2 others(42): Show |
a0001a0004a0007 | a0001c0001a0001c0009a0004c0005others(1): Show | a0001c0001t0001a0001c0009t0001a0004c0005t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 others(37): Show |
45 | 380 | 0.1184 | -1 | c.580 others(9): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 6/9 | chr2 | TogoVar | |||||||
ACMSD_chr2_134833616_134907034 | 134873356 | GC | G | intron_variant | MODIFIER | HG02486.hp1 HG02965.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0148 a0001c0001t0001g0149 others(1): Show |
5 | 380 | 0.0132 | -1 | c.849 others(8): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | chr2 | TogoVar | |||||||
ACMSD_chr2_134833616_134907034 | 134885246 | AT | A | intron_variant | MODIFIER | HG00735.hp2 HG01243.hp1 HG01358.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0217 others(16): Show |
19 | 380 | 0.0500 | -1 | c.849 others(10): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134885255 | TA | T | intron_variant | MODIFIER | HG01978.hp2 NA18940.hp2 NA18961.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0092 others(2): Show |
5 | 378 | 0.0132 | -1 | c.849 others(10): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134885339 | AT | A | intron_variant | MODIFIER | NA18949.hp2 NA18992.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0340 |
3 | 380 | 0.0079 | -1 | c.849 others(10): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134885398 | AT | A | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00597.hp1 others(102): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0005c0010t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(95): Show |
105 | 380 | 0.2763 | -1 | c.849 others(10): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134892225 | AT | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(295): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0009others(7): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0001others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(279): Show |
298 | 377 | 0.7905 | -1 | c.850 others(9): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134893209 | AT | A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(162): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0009a0004c0005others(2): Show | a0001c0001t0001a0001c0009t0001a0004c0005t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(150): Show |
165 | 246 | 0.6707 | -1 | c.850 others(9): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32389669 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(176): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(81): Show | a0001c0001t0001g0006 a0001c0001t0001g0067 a0001c0001t0001g0072 others(162): Show |
179 | 277 | 0.6462 | -1 | c.-23 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32390478 | CT | C | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp1 HG01261.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0029a0001c0001t0076a0001c0002t0002 | a0001c0001t0029g0017 a0001c0001t0076g0017 a0001c0002t0002g0144 |
3 | 380 | 0.0079 | -1 | c.-23 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 1/20 | chr9 | TogoVar | |||||||
ACO1_chr9_32379643_32459769 | 32398540 | CT | C | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG01346.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0108a0001c0001t0110a0001c0002t0027others(9): Show | a0001c0001t0108g0139 a0001c0001t0110g0062 a0001c0002t0027g0303 others(13): Show |
17 | 380 | 0.0447 | -1 | c.-22 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32399966 | GT | G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00621.hp1 others(61): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(37): Show | a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0108 others(58): Show |
64 | 113 | 0.5664 | -1 | c.-22 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32400947 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0005others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(118): Show | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0024 others(270): Show |
297 | 379 | 0.7836 | -1 | c.-22 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32401193 | TA | T | intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02723.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0011a0001c0019others(2): Show | a0001c0001t0108a0001c0001t0110a0001c0011t0106others(5): Show | a0001c0001t0108g0139 a0001c0001t0110g0062 a0001c0011t0106g0140 others(6): Show |
9 | 380 | 0.0237 | -1 | c.-22 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 1/20 | chr9 | TogoVar | |||||||
ACO1_chr9_32379643_32459769 | 32401332 | GT | G | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00642.hp1 others(50): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0024 others(46): Show |
53 | 373 | 0.1421 | -1 | c.-22 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32410559 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG01167.hp2 HG01175.hp2 others(39): Show |
a0001a0014 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0016others(17): Show | a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0110 others(36): Show |
42 | 378 | 0.1111 | -1 | c.404 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32413482 | CA | C | intron_variant | MODIFIER | HG01099.hp1 HG01243.hp2 HG01891.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0007a0001c0001t0041a0001c0001t0101others(11): Show | a0001c0001t0007g0271 a0001c0001t0041g0212 a0001c0001t0101g0323 others(14): Show |
18 | 90 | 0.2000 | -1 | c.405 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32426978 | CT | C | intron_variant | MODIFIER | HG02486.hp1 HG03453.hp2 HG03516.hp1 |
a0001 | a0001c0011a0001c0025 | a0001c0011t0106a0001c0011t0107a0001c0025t0028 | a0001c0011t0106g0140 a0001c0011t0107g0141 a0001c0025t0028g0070 |
3 | 380 | 0.0079 | -1 | c.134 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 11/20 | chr9 | TogoVar | |||||||
ACO1_chr9_32379643_32459769 | 32426979 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0002a0001c0005others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(105): Show | a0001c0001t0001g0052 a0001c0001t0001g0101 a0001c0001t0001g0151 others(232): Show |
255 | 372 | 0.6855 | -1 | c.134 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32428112 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00558.hp2 others(164): Show |
a0001a0003a0006others(5): Show | a0001c0001a0001c0002a0001c0005others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(62): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0021 others(152): Show |
167 | 371 | 0.4501 | -1 | c.148 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32428281 | CA | C | intron_variant | MODIFIER | HG01099.hp1 HG01175.hp2 HG01243.hp1 others(23): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0022others(18): Show | a0001c0001t0001g0331 a0001c0001t0007g0271 a0001c0001t0022g0191 others(23): Show |
26 | 207 | 0.1256 | -1 | c.148 others(9): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32447415 | CA | C | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG01891.hp2 others(12): Show |
a0001a0002 | a0001c0008a0001c0010a0001c0011others(5): Show | a0001c0008t0033a0001c0010t0028a0001c0010t0071others(10): Show | a0001c0008t0033g0086 a0001c0008t0033g0326 a0001c0010t0028g0066 others(12): Show |
15 | 380 | 0.0395 | -1 | c.237 others(10): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
ACO1_chr9_32379643_32459769 | 32452963 | AC | A | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00673.hp1 others(56): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0014a0001c0001t0037others(15): Show | a0001c0001t0002g0149 a0001c0001t0002g0166 a0001c0001t0002g0322 others(52): Show |
59 | 369 | 0.1599 | -1 | c.*28 others(6): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 21/21 | 2866 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ACO1_chr9_32379643_32459769 | 32454370 | GA | G | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00741.hp1 others(38): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0002c0007others(4): Show | a0001c0001t0006a0001c0001t0015a0001c0001t0018others(19): Show | a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0022 others(36): Show |
41 | 380 | 0.1079 | -1 | c.*42 others(6): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 21/21 | 4261 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ACO1_chr9_32379643_32459769 | 32455683 | GA | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00544.hp1 others(47): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0002a0003c0003others(2): Show | a0001c0001t0004a0001c0001t0025a0001c0001t0050others(16): Show | a0001c0001t0004g0042 a0001c0001t0004g0044 a0001c0001t0004g0090 others(44): Show |
50 | 379 | 0.1319 | -1 | c.*55 others(6): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 915 | chr9 | TogoVar | |||||||
ACO1_chr9_32379643_32459769 | 32457483 | TA | T | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02083.hp1 HG02896.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0005a0001c0002t0002a0001c0002t0004others(3): Show | a0001c0001t0005g0006 a0001c0002t0002g0234 a0001c0002t0004g0246 others(3): Show |
6 | 379 | 0.0158 | -1 | c.*73 others(6): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 2715 | chr9 | TogoVar | |||||||
ACO2_chr22_41464117_41533974 | 41467036 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(256): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 others(238): Show |
259 | 332 | 0.7801 | -1 | c.-21 others(6): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 2080 | chr22 | TogoVar | |||||||
ACO2_chr22_41464117_41533974 | 41472352 | CA | C | intron_variant | MODIFIER | HG01257.hp1 HG01884.hp1 HG02523.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0278 a0001c0001t0001g0288 a0001c0002t0001g0126 others(5): Show |
8 | 310 | 0.0258 | -1 | c.36+ others(8): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ACO2_chr22_41464117_41533974 | 41474289 | AT | A | intron_variant | MODIFIER | HG00323.hp2 HG01099.hp2 HG02280.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0158 a0001c0002t0001g0007 a0001c0002t0001g0033 others(7): Show |
11 | 203 | 0.0542 | -1 | c.36+ others(8): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ACO2_chr22_41464117_41533974 | 41474592 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(219): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(206): Show |
222 | 307 | 0.7231 | -1 | c.36+ others(8): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ACO2_chr22_41464117_41533974 | 41475169 | CT | C | intron_variant | MODIFIER | HG01884.hp1 HG02148.hp2 HG02300.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0179 others(13): Show |
16 | 304 | 0.0526 | -1 | c.36+ others(8): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ACO2_chr22_41464117_41533974 | 41478764 | CT | C | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG01070.hp2 others(18): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0045 a0001c0001t0001g0082 a0001c0001t0001g0170 others(18): Show |
21 | 307 | 0.0684 | -1 | c.36+ others(8): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ACO2_chr22_41464117_41533974 | 41485434 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(235): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0019 others(219): Show |
238 | 313 | 0.7604 | -1 | c.37- others(9): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ACO2_chr22_41464117_41533974 | 41494411 | CT | C | intron_variant | MODIFIER | HG01192.hp1 HG01884.hp1 HG01934.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0165 a0001c0001t0001g0183 others(16): Show |
20 | 319 | 0.0627 | -1 | c.37- others(8): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ACO2_chr22_41464117_41533974 | 41504711 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01081.hp2 others(5): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001a0001c0003t0004 | a0001c0002t0001g0110 a0001c0002t0001g0123 a0001c0002t0001g0131 others(5): Show |
8 | 250 | 0.0320 | -1 | c.174 others(9): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ACO2_chr22_41464117_41533974 | 41516929 | CA | C | intron_variant | MODIFIER | HG02886.hp1 HG03486.hp1 NA18522.hp2 |
a0001a0002 | a0001c0002a0002c0008 | a0001c0002t0001a0002c0008t0001 | a0001c0002t0001g0166 a0001c0002t0001g0167 a0002c0008t0001g0159 |
3 | 332 | 0.0090 | -1 | c.836 others(8): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 6/17 | chr22 | TogoVar | |||||||
ACO2_chr22_41464117_41533974 | 41518771 | TA | T | intron_variant | MODIFIER | HG01169.hp1 HG02280.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0009 a0001c0002t0001g0114 a0001c0002t0001g0145 others(2): Show |
6 | 313 | 0.0192 | -1 | c.103 others(9): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ACO2_chr22_41464117_41533974 | 41522649 | GT | G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp1 others(50): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(46): Show |
53 | 332 | 0.1596 | -1 | c.113 others(9): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ACO2_chr22_41464117_41533974 | 41525834 | GA | G | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG01496.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0309 a0001c0002t0001g0006 a0001c0002t0001g0030 others(11): Show |
15 | 332 | 0.0452 | -1 | c.176 others(9): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 14/17 | chr22 | TogoVar | |||||||
ACO2_chr22_41464117_41533974 | 41529857 | AC | A | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02809.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 others(1): Show |
4 | 332 | 0.0120 | -1 | c.*12 others(6): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 884 | chr22 | TogoVar | |||||||
ACOD1_chr13_76943511_76963638 | 76944257 | CA | C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG00738.hp1 others(48): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 others(17): Show |
51 | 145 | 0.3517 | -1 | c.-43 others(6): Show |
ACOD1 | ENSG00000102794.11 | transcript | ENST00000377462.6 | protein_coding | 4253 | chr13 | TogoVar | |||||||
ACOD1_chr13_76943511_76963638 | 76945567 | CT | C | upstream_gene_variant | MODIFIER | HG02293.hp1 HG02717.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0002g0002 |
6 | 429 | 0.0140 | -1 | c.-29 others(6): Show |
ACOD1 | ENSG00000102794.11 | transcript | ENST00000377462.6 | protein_coding | 2943 | chr13 | TogoVar | |||||||
ACOD1_chr13_76943511_76963638 | 76947759 | CT | C | upstream_gene_variant | MODIFIER | NA18951.hp1 NA18959.hp1 NA18978.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(3): Show |
8 | 217 | 0.0369 | -1 | c.-79 others(5): Show |
ACOD1 | ENSG00000102794.11 | transcript | ENST00000377462.6 | protein_coding | 751 | chr13 | TogoVar | |||||||
ACOD1_chr13_76943511_76963638 | 76947926 | AT | A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG00738.hp2 others(40): Show |
a0001a0007 | a0001c0001a0001c0004a0007c0009 | a0001c0001t0001a0001c0004t0001a0007c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(13): Show |
43 | 390 | 0.1103 | -1 | c.-63 others(5): Show |
ACOD1 | ENSG00000102794.11 | transcript | ENST00000377462.6 | protein_coding | 584 | chr13 | TogoVar | |||||||
ACOD1_chr13_76943511_76963638 | 76954168 | AT | A | intron_variant | MODIFIER | HG01243.hp2 HG01256.hp2 HG01258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0020 |
8 | 432 | 0.0185 | -1 | c.264 others(8): Show |
ACOD1 | ENSG00000102794.11 | transcript | ENST00000377462.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ACOD1_chr13_76943511_76963638 | 76955126 | CA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00558.hp2 others(83): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0033 others(21): Show |
86 | 209 | 0.4115 | -1 | c.265 others(8): Show |
ACOD1 | ENSG00000102794.11 | transcript | ENST00000377462.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54545420 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(259): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0009others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 others(256): Show |
262 | 314 | 0.8344 | -1 | c.-28 others(6): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 2807 | chr1 | TogoVar | |||||||
ACOT11_chr1_54543228_54615329 | 54548394 | GA | G | intron_variant | MODIFIER | HG01175.hp2 HG02257.hp1 HG03688.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0005 | a0001c0001t0001g0381 a0001c0001t0002g0384 a0003c0003t0005g0382 others(1): Show |
4 | 386 | 0.0104 | -1 | c.33+ others(6): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54551130 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(122): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0019others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0021 others(121): Show |
125 | 351 | 0.3561 | -1 | c.33+ others(8): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |