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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASCC3_chr6_100503194_100886329 | 100608282 | ATATACTT | A | intron_variant | MODIFIER | HG02615.hp1 HG02809.hp2 HG03516.hp1 others(1): Show |
a0008a0017 | a0008c0012a0008c0025a0017c0032 | a0008c0012t0009a0008c0025t0017a0017c0032t0019 | a0008c0012t0009g0312 a0008c0012t0009g0313 a0008c0025t0017g0227 others(1): Show |
4 | 200 | 0.0200 | -7 | c.478 others(26): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608681 | ATATATTT | A | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG03453.hp1 others(2): Show |
a0001a0018 | a0001c0002a0018c0017 | a0001c0002t0001a0018c0017t0003 | a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 others(2): Show |
5 | 297 | 0.0168 | -7 | c.478 others(26): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100693009 | ATTTTAAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG02083.hp2 others(7): Show |
a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0161 a0001c0006t0005g0162 a0001c0006t0005g0163 others(7): Show |
10 | 312 | 0.0321 | -7 | c.215 others(28): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 13/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100716779 | TTAGGTGA | T | intron_variant | MODIFIER | HG00738.hp2 HG01928.hp1 HG01943.hp1 others(5): Show |
a0002a0009a0010 | a0002c0003a0009c0037a0010c0035 | a0002c0003t0002a0009c0037t0002a0010c0035t0002 | a0002c0003t0002g0028 a0002c0003t0002g0042 a0002c0003t0002g0051 others(5): Show |
8 | 312 | 0.0256 | -7 | c.208 others(26): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 12/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100774553 | GACAGGGT | G | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp1 others(67): Show |
a0001a0004a0005others(4): Show | a0001c0002a0001c0019a0001c0020others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(10): Show | a0001c0002t0001g0290 a0001c0002t0002g0082 a0001c0002t0002g0083 others(67): Show |
70 | 312 | 0.2244 | -7 | c.139 others(26): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 8/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100818748 | CAAAAAAA | C | intron_variant | MODIFIER | HG02723.hp2 HG03209.hp2 HG03453.hp2 others(3): Show |
a0001a0004a0018 | a0001c0011a0004c0013a0018c0017 | a0001c0011t0001a0001c0011t0002a0004c0013t0003others(1): Show | a0001c0011t0001g0297 a0001c0011t0002g0072 a0001c0011t0002g0073 others(3): Show |
6 | 136 | 0.0441 | -7 | c.802 others(26): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 4/41 | chr6 | TogoVar | |||||||
ASCL3_chr11_8932578_8948016 | 8947331 | GAGGACAT | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(305): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0012a0002c0002others(4): Show | a0001c0001t0001a0001c0012t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(37): Show |
308 | 438 | 0.7032 | -7 | c.-43 others(18): Show |
ASCL3 | ENSG00000176009.4 | transcript | ENST00000531618.2 | protein_coding | 4316 | chr11 | TogoVar | |||||||
ASCL4_chr12_107769704_107781644 | 107771235 | GTTTTTTT | G | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02622.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0002c0002t0003 | a0001c0001t0002g0000 a0001c0001t0005g0000 a0002c0002t0003g0000 |
6 | 152 | 0.0395 | -7 | c.-39 others(18): Show |
ASCL4 | ENSG00000187855.6 | transcript | ENST00000342331.5 | protein_coding | 3468 | chr12 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155422303 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00639.hp2 others(15): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0025 others(15): Show |
18 | 143 | 0.1259 | -7 | c.582 others(26): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 5/27 | chr1 | TogoVar | |||||||
ASH2L_chr8_38100529_38145080 | 38103348 | CTAAAAAT | C | upstream_gene_variant | MODIFIER | HG02071.hp2 HG02083.hp1 HG02165.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 others(2): Show |
5 | 328 | 0.0152 | -7 | c.-22 others(18): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 2180 | chr8 | TogoVar | |||||||
ASIP_chr20_34236423_34274344 | 34257076 | TTTTTTTG | T | intron_variant | MODIFIER | HG02572.hp1 HG02723.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 a0001c0001t0002g0037 a0001c0001t0002g0038 others(2): Show |
7 | 304 | 0.0230 | -7 | c.-10 others(24): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASL_chr7_66070819_66098576 | 66098366 | AAATAAAT | A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01257.hp2 others(13): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0038 others(8): Show |
16 | 314 | 0.0510 | -7 | c.*54 others(18): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 4791 | chr7 | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1410747 | GTGATGCA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(159): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0008a0001c0010others(34): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(35): Show | a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0023 others(157): Show |
162 | 183 | 0.8852 | -7 | c.164 others(26): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1430921 | CATTATAT | C | intron_variant | MODIFIER | HG00741.hp1 HG02896.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0010a0001c0037 | a0001c0010t0001a0001c0037t0001 | a0001c0010t0001g0015 a0001c0010t0001g0177 a0001c0010t0001g0181 others(1): Show |
4 | 183 | 0.0219 | -7 | c.509 others(24): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 6/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1431633 | ATATATAT | A | intron_variant | MODIFIER | HG01070.hp1 HG01123.hp1 HG02451.hp1 |
a0001a0002 | a0001c0035a0002c0003a0002c0028 | a0001c0035t0001a0002c0003t0001a0002c0028t0001 | a0001c0035t0001g0101 a0002c0003t0001g0008 a0002c0028t0001g0133 |
3 | 183 | 0.0164 | -7 | c.509 others(22): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 6/12 | chrX | TogoVar | |||||||
ASNS_chr7_97846677_97877408 | 97867074 | ACCAAACT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0090 others(25): Show |
58 | 434 | 0.1336 | -7 | c.249 others(24): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
ASPHD2_chr22_26424260_26450015 | 26437293 | TCTTCTGC | T | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0035 | 3 | 426 | 0.0070 | -7 | c.886 others(24): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61704194 | CAAAAAAA | C | intron_variant | MODIFIER | HG00558.hp2 HG01070.hp2 HG01074.hp1 others(43): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 others(43): Show |
46 | 58 | 0.7931 | -7 | c.103 others(26): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 1/24 | chr8 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62353293 | CTTTATAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0057 others(11): Show |
14 | 368 | 0.0380 | -7 | c.191 others(24): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62362701 | TATATAAA | T | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0038 | a0001c0001t0021g0330 a0001c0001t0021g0332 a0001c0001t0038g0333 |
3 | 368 | 0.0082 | -7 | c.491 others(24): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62362891 | ATTTTTTT | A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00597.hp1 others(52): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0022 a0001c0001t0001g0089 a0001c0001t0001g0107 others(52): Show |
55 | 56 | 0.9821 | -7 | c.491 others(24): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62371953 | CAAAAAAA | C | intron_variant | MODIFIER | HG02056.hp1 HG02622.hp1 HG02630.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0021a0001c0001t0038a0001c0005t0040others(3): Show | a0001c0001t0021g0330 a0001c0001t0021g0332 a0001c0001t0038g0333 others(4): Show |
7 | 187 | 0.0374 | -7 | c.491 others(26): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62392568 | CAAAAAAA | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(219): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(215): Show |
222 | 326 | 0.6810 | -7 | c.*29 others(16): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 7/7 | 295 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62394160 | ATATATAT | A | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02486.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0020a0001c0001t0039 | a0001c0001t0019g0331 a0001c0001t0019g0334 a0001c0001t0020g0335 others(2): Show |
5 | 368 | 0.0136 | -7 | c.*18 others(18): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 749 | chr11 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62394287 | GTATATAT | G | downstream_gene_variant | MODIFIER | NA18957.hp2 NA19064.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0052 a0001c0001t0013g0065 a0001c0001t0013g0066 |
3 | 368 | 0.0082 | -7 | c.*20 others(18): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 876 | chr11 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62395759 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02145.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0008 | a0001c0001t0003g0127 a0001c0001t0007g0311 a0001c0001t0007g0312 others(13): Show |
16 | 144 | 0.1111 | -7 | c.*34 others(18): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 2348 | chr11 | TogoVar | |||||||
ASS1_chr9_130439961_130506274 | 130465047 | TATATATA | T | intron_variant | MODIFIER | HG01167.hp2 HG02280.hp2 HG02486.hp2 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0011 a0002c0004t0001g0216 a0002c0004t0001g0217 others(2): Show |
6 | 372 | 0.0161 | -7 | c.420 others(22): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 5/14 | chr9 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176889467 | CAAAAGAA | C | intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0007a0001c0002t0014 | a0001c0001t0007g0097 a0001c0002t0007g0023 a0001c0002t0007g0069 others(3): Show |
6 | 110 | 0.0545 | -7 | c.294 others(26): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 17/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176902172 | ATTTTTTG | A | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01070.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0008a0001c0001t0018a0001c0002t0015others(3): Show | a0001c0001t0008g0085 a0001c0001t0018g0053 a0001c0002t0015g0039 others(4): Show |
7 | 110 | 0.0636 | -7 | c.267 others(26): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 16/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 176981211 | CAAAAAAA | C | intron_variant | MODIFIER | HG01192.hp1 HG02145.hp1 HG02486.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0011 | a0001c0002t0002a0001c0002t0014a0001c0003t0002others(2): Show | a0001c0002t0002g0108 a0001c0002t0014g0004 a0001c0003t0002g0036 others(2): Show |
5 | 32 | 0.1563 | -7 | c.152 others(28): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177002375 | AAACACAC | A | intron_variant | MODIFIER | HG02886.hp1 HG02886.hp2 |
a0001 | a0001c0003a0001c0012 | a0001c0003t0001a0001c0012t0004 | a0001c0003t0001g0109 a0001c0012t0004g0010 |
2 | 110 | 0.0182 | -7 | c.152 others(28): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116478991 | CAAAAAAA | C | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01515.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0099 a0001c0002t0001g0057 a0001c0002t0002g0023 others(2): Show |
5 | 24 | 0.2083 | -7 | c.349 others(26): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 20/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116498422 | AAAAAAAC | A | intron_variant | MODIFIER | HG00735.hp2 HG01256.hp2 HG01258.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0015others(4): Show | a0001c0001t0002g0040 a0001c0001t0006g0079 a0001c0001t0015g0045 others(6): Show |
9 | 100 | 0.0900 | -7 | c.335 others(28): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116791032 | AAAGAAAG | A | intron_variant | MODIFIER | HG01099.hp1 HG01256.hp2 HG01258.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0002t0002others(3): Show | a0001c0001t0003g0013 a0001c0001t0008g0008 a0001c0002t0002g0023 others(5): Show |
8 | 100 | 0.0800 | -7 | c.239 others(28): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117128371 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01496.hp1 others(11): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0005a0001c0001t0008a0001c0002t0001others(9): Show | a0001c0001t0005g0035 a0001c0001t0008g0064 a0001c0002t0001g0036 others(11): Show |
14 | 19 | 0.7368 | -7 | c.116 others(28): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117411446 | CAAAAAAA | C | intron_variant | MODIFIER | HG03041.hp1 HG03471.hp2 NA18959.hp2 others(5): Show |
a0001a0002a0007 | a0001c0002a0001c0022a0002c0004others(1): Show | a0001c0002t0003a0001c0022t0001a0002c0004t0001others(4): Show | a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0022t0001g0020 others(5): Show |
8 | 61 | 0.1311 | -7 | c.442 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | |||||||
ASXL1_chr20_32353331_32444319 | 32376814 | TTTATATA | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(44): Show |
a0001 | a0001c0001a0001c0018a0001c0020 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 others(43): Show |
47 | 280 | 0.1679 | -7 | c.252 others(24): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32376863 | ATTATATG | A | intron_variant | MODIFIER | HG00544.hp2 HG01952.hp2 HG02004.hp2 others(33): Show |
a0001a0002a0014 | a0001c0001a0002c0003a0014c0014 | a0001c0001t0001a0001c0001t0004a0002c0003t0001others(2): Show | a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0147 others(33): Show |
36 | 280 | 0.1286 | -7 | c.252 others(24): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32379161 | CTTTTTTT | C | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01358.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0018a0001c0019others(1): Show | a0001c0001t0001a0001c0018t0001a0001c0019t0012others(1): Show | a0001c0001t0001g0044 a0001c0001t0001g0059 a0001c0001t0001g0069 others(3): Show |
6 | 27 | 0.2222 | -7 | c.252 others(26): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32399747 | CTTTTTTT | C | intron_variant | MODIFIER | HG02647.hp2 HG02723.hp1 HG02809.hp2 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0003a0003c0004t0011 | a0003c0004t0003g0097 a0003c0004t0003g0098 a0003c0004t0003g0099 others(4): Show |
7 | 40 | 0.1750 | -7 | c.253 others(26): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32411536 | CTTTTTTT | C | intron_variant | MODIFIER | HG01261.hp2 HG01358.hp2 HG02300.hp1 others(9): Show |
a0001a0004a0009 | a0001c0001a0001c0022a0004c0006others(2): Show | a0001c0001t0017a0001c0022t0001a0004c0006t0006others(3): Show | a0001c0001t0017g0013 a0001c0022t0001g0012 a0004c0006t0006g0002 others(9): Show |
12 | 219 | 0.0548 | -7 | c.253 others(26): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32418809 | CTTTTTTT | C | intron_variant | MODIFIER | HG02300.hp1 HG02451.hp2 HG02976.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0017a0004c0006t0006 | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0126 others(3): Show |
6 | 26 | 0.2308 | -7 | c.253 others(24): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25826248 | AGTGGGCT | A | intron_variant | MODIFIER | HG02109.hp1 HG02602.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0019 | a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0215 others(5): Show |
8 | 220 | 0.0364 | -7 | c.143 others(24): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
ASXL3_chr18_33573219_33756195 | 33610801 | GATATTTA | G | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00558.hp2 others(32): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0040 a0001c0001t0001g0156 a0001c0001t0001g0160 others(32): Show |
35 | 218 | 0.1606 | -7 | c.137 others(24): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33713236 | TTGTTTTG | T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01943.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0012a0002c0002t0003 | a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0105 others(4): Show |
7 | 194 | 0.0361 | -7 | c.880 others(26): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASZ1_chr7_117358222_117432493 | 117371665 | CACTTATA | C | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 a0001c0001t0003g0114 a0001c0001t0003g0119 |
4 | 304 | 0.0132 | -7 | c.105 others(26): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 10/12 | chr7 | TogoVar | |||||||
ATAD2B_chr2_23743664_23932123 | 23818362 | CAAAAAAA | C | intron_variant | MODIFIER | HG00738.hp1 HG02145.hp1 HG02300.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014 | a0001c0001t0001g0210 a0001c0001t0002g0034 a0001c0001t0002g0076 others(2): Show |
5 | 28 | 0.1786 | -7 | c.226 others(26): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 17/27 | chr2 | TogoVar | |||||||
ATAD5_chr17_30826966_30900869 | 30850860 | TATATATA | T | intron_variant | MODIFIER | HG00597.hp1 HG01070.hp2 HG01255.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 a0001c0001t0001g0141 a0001c0001t0001g0142 |
3 | 284 | 0.0106 | -7 | c.245 others(26): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
ATAD5_chr17_30826966_30900869 | 30885623 | CTTTTTTT | C | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02258.hp1 others(16): Show |
a0001a0005a0010 | a0001c0001a0005c0005a0010c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0001g0134 a0001c0001t0003g0239 a0001c0001t0003g0245 others(16): Show |
19 | 132 | 0.1439 | -7 | c.407 others(26): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATCAY_chr19_3875685_3933082 | 3879506 | AAAGAAAG | A | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG01255.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0214 others(15): Show |
18 | 250 | 0.0720 | -7 | c.-15 others(18): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 1178 | chr19 | TogoVar |