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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASB3_chr2_53664980_53791953 | 53791906 | TAAAAAAA | T | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01515.hp2 HG02451.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0013 | a0001c0001t0001g0016a0001c0001t0001g0311a0001c0001t0001g0319others(7): Show | 10 | 350 | 0.0286 | -7 | c.-51 others(18): Show |
ASB3 | ENSG00000115239.24 | transcript | ENST00000263634.8 | protein_coding | 4954 | chr2 | TogoVar | ||||||
ASCC1_chr10_72091032_72221276 | 72218166 | ATATATAT | A | upstream_gene_variant | MODIFIER | HG02145.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0131 | 2 | 216 | 0.0093 | -7 | c.-20 others(18): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 1891 | chr10 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100532402 | ATATATTT | A | intron_variant | MODIFIER | HG00544.hp2 HG00741.hp1 HG01074.hp2 others(24): Show |
a0001a0004 | a0001c0001a0001c0011a0001c0034others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0011t0001others(3): Show | a0001c0001t0001g0214a0001c0001t0001g0221a0001c0001t0001g0223others(24): Show | 27 | 314 | 0.0860 | -7 | c.577 others(26): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 37/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100532404 | ATATTTTT | A | intron_variant | MODIFIER | HG01515.hp2 HG02040.hp2 HG02572.hp2 others(7): Show |
a0001a0003a0013others(2): Show | a0001c0001a0003c0004a0003c0005others(3): Show | a0001c0001t0001a0003c0004t0001a0003c0005t0002others(3): Show | a0001c0001t0001g0247a0001c0001t0001g0248a0001c0001t0001g0255others(7): Show | 10 | 314 | 0.0319 | -7 | c.577 others(26): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 37/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100532406 | ATTTTTTT | A | intron_variant | MODIFIER | HG01884.hp1 HG01928.hp2 HG02109.hp1 others(7): Show |
a0001a0003a0005 | a0001c0002a0003c0004a0003c0005others(1): Show | a0001c0002t0003a0003c0004t0004a0003c0005t0001others(3): Show | a0001c0002t0003g0122a0003c0004t0004g0184a0003c0005t0001g0285others(7): Show | 10 | 314 | 0.0319 | -7 | c.577 others(26): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 37/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100568768 | ATTATTAT | A | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG02572.hp2 others(5): Show |
a0003a0013a0020 | a0003c0004a0013c0021a0020c0033 | a0003c0004t0001a0013c0021t0001a0020c0033t0001 | a0003c0004t0001g0209a0003c0004t0001g0211a0003c0004t0001g0286others(5): Show | 8 | 314 | 0.0255 | -7 | c.555 others(28): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 36/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100608282 | ATATACTT | A | intron_variant | MODIFIER | HG02615.hp1 HG02809.hp2 HG03516.hp1 others(1): Show |
a0007a0018 | a0007c0012a0007c0025a0018c0032 | a0007c0012t0009a0007c0025t0017a0018c0032t0019 | a0007c0012t0009g0312a0007c0012t0009g0313a0007c0025t0017g0227others(1): Show | 4 | 314 | 0.0127 | -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 |
a0001a0016 | a0001c0002a0016c0017 | a0001c0002t0001a0016c0017t0003 | a0001c0002t0001g0201a0001c0002t0001g0202a0001c0002t0001g0203others(2): Show | 5 | 314 | 0.0159 | -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 | a0001c0006t0005g0161a0001c0006t0005g0162a0001c0006t0005g0163others(7): Show | 10 | 314 | 0.0319 | -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 |
a0002a0010a0022 | a0002c0003a0010c0035a0022c0037 | a0002c0003t0002a0010c0035t0002a0022c0037t0002 | a0002c0003t0002g0028a0002c0003t0002g0035a0002c0003t0002g0043others(5): Show | 8 | 314 | 0.0255 | -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 | a0001c0002t0001g0290a0001c0002t0002g0083a0001c0002t0002g0084others(67): Show | 70 | 314 | 0.2229 | -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 |
a0001a0004a0016 | a0001c0011a0004c0013a0016c0017 | a0001c0011t0001a0001c0011t0002a0004c0013t0003others(1): Show | a0001c0011t0001g0297a0001c0011t0002g0072a0001c0011t0002g0073others(3): Show | 6 | 314 | 0.0191 | -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(306): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0012a0002c0002others(4): Show | a0001c0001t0001a0001c0012t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(41): Show | 309 | 440 | 0.7023 | -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 | a0001c0001t0002g0000a0001c0001t0005g0000a0002c0002t0003g0000 | 6 | 462 | 0.0130 | -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(16): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0025others(16): Show | 19 | 182 | 0.1044 | -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 | a0001c0001t0001g0065a0001c0001t0001g0070a0001c0001t0001g0071others(2): Show | 5 | 330 | 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 | a0001c0001t0002g0008a0001c0001t0002g0038a0001c0001t0002g0039others(2): Show | 7 | 306 | 0.0229 | -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 | a0001c0001t0001g0011a0001c0001t0001g0019a0001c0001t0001g0038others(8): Show | 16 | 316 | 0.0506 | -7 | c.*54 others(18): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 4791 | chr7 | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1398257 | TGCAGTGA | T | downstream_gene_variant | MODIFIER | NA18963.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0003 | 1 | 185 | 0.0054 | -7 | c.*50 others(18): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 4881 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1410747 | GTGATGCA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(160): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0008a0001c0011others(38): Show | a0001c0001t0001a0001c0008t0001a0001c0011t0001others(40): Show | a0001c0001t0001g0002a0001c0001t0001g0021a0001c0001t0001g0022others(159): Show | 163 | 185 | 0.8811 | -7 | c.164 others(26): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1411806 | CTTTTTTT | C | intron_variant | MODIFIER | HG01975.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0010 | 1 | 185 | 0.0054 | -7 | c.164 others(24): 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 | a0001c0011a0001c0042 | a0001c0011t0001a0001c0042t0001 | a0001c0011t0001g0014a0001c0011t0001g0174a0001c0011t0001g0178others(1): Show | 4 | 185 | 0.0216 | -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 | a0001c0040a0002c0009a0002c0031 | a0001c0040t0001a0002c0009t0001a0002c0031t0001 | a0001c0040t0001g0099a0002c0009t0001g0008a0002c0031t0001g0131 | 3 | 185 | 0.0162 | -7 | c.509 others(22): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 6/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1450052 | TATCCTTC | T | intron_variant | MODIFIER | NA18971.hp2 | a0000 | a0000c0007 | a0000c0007t0001 | a0000c0007t0001g0086 | 1 | 185 | 0.0054 | -7 | c.93+ others(22): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1630300 | ATTTTTTT | A | intron_variant | MODIFIER | HG02523.hp1 | a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0111 | 1 | 223 | 0.0045 | -7 | c.562 others(22): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASNS_chr7_97846677_97877408 | 97867074 | ACCAAACT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0081a0001c0001t0001g0087a0001c0001t0001g0090others(25): Show | 58 | 436 | 0.1330 | -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 | 428 | 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 |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0084a0001c0001t0001g0085a0001c0001t0001g0086others(43): Show | 46 | 258 | 0.1783 | -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 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0054others(11): Show | 14 | 370 | 0.0378 | -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 | a0001c0001t0021g0335a0001c0001t0021g0337a0001c0001t0038g0338 | 3 | 370 | 0.0081 | -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 | a0001c0001t0001g0019a0001c0001t0001g0086a0001c0001t0001g0104others(52): Show | 55 | 370 | 0.1487 | -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 | a0001c0001t0021g0335a0001c0001t0021g0337a0001c0001t0038g0338others(4): Show | 7 | 370 | 0.0189 | -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(220): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(219): Show | 223 | 370 | 0.6027 | -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 | a0001c0001t0019g0336a0001c0001t0019g0339a0001c0001t0020g0340others(2): Show | 5 | 370 | 0.0135 | -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 | a0001c0001t0013g0049a0001c0001t0013g0062a0001c0001t0013g0063 | 3 | 370 | 0.0081 | -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 | a0001c0001t0003g0124a0001c0001t0007g0316a0001c0001t0007g0317others(13): Show | 16 | 370 | 0.0432 | -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 | a0002c0004t0001g0012a0002c0004t0001g0310a0002c0004t0001g0311others(2): Show | 6 | 374 | 0.0160 | -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 | a0001c0001t0007g0099a0001c0002t0007g0020a0001c0002t0007g0069others(3): Show | 6 | 112 | 0.0536 | -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(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0008a0001c0001t0018a0001c0002t0015others(3): Show | a0001c0001t0008g0086a0001c0001t0018g0054a0001c0002t0015g0039others(5): Show | 8 | 112 | 0.0714 | -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 | a0001c0002t0002g0108a0001c0002t0014g0004a0001c0003t0002g0036others(2): Show | 5 | 112 | 0.0446 | -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 | a0001c0003t0001g0109a0001c0012t0004g0010 | 2 | 112 | 0.0179 | -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 | a0001c0001t0001g0099a0001c0002t0001g0058a0001c0002t0002g0023others(2): Show | 5 | 102 | 0.0490 | -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 | a0001c0001t0002g0040a0001c0001t0006g0079a0001c0001t0015g0045others(6): Show | 9 | 102 | 0.0882 | -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 | a0001c0001t0003g0013a0001c0001t0008g0008a0001c0002t0002g0023others(5): Show | 8 | 102 | 0.0784 | -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 |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0005a0001c0001t0008a0001c0002t0001others(9): Show | a0001c0001t0005g0035a0001c0001t0008g0065a0001c0002t0001g0036others(11): Show | 14 | 102 | 0.1373 | -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 |
a0001a0002a0005 | a0001c0002a0001c0022a0002c0004others(1): Show | a0001c0002t0003a0001c0022t0001a0002c0004t0001others(4): Show | a0001c0002t0003g0021a0001c0002t0003g0022a0001c0022t0001g0020others(5): Show | 8 | 102 | 0.0784 | -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 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0018others(44): Show | 47 | 282 | 0.1667 | -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 |
a0001a0002a0015 | a0001c0001a0002c0003a0015c0014 | a0001c0001t0001a0001c0001t0004a0002c0003t0001others(2): Show | a0001c0001t0001g0130a0001c0001t0001g0137a0001c0001t0001g0148others(33): Show | 36 | 282 | 0.1277 | -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 | a0001c0001t0001g0043a0001c0001t0001g0069a0001c0001t0001g0081others(3): Show | 6 | 282 | 0.0213 | -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 | a0003c0004t0003g0098a0003c0004t0003g0099a0003c0004t0003g0100others(4): Show | 7 | 282 | 0.0248 | -7 | c.253 others(26): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |