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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2ML1_chr12_8817621_8881787 | 8856898 | CTTTTTTT | C | intron_variant | MODIFIER | HG01074.hp1 HG01261.hp2 HG02055.hp2 others(11): Show |
a0004a0006a0012others(5): Show | a0004c0042a0006c0011a0012c0022others(6): Show | a0004c0042t0002a0006c0011t0005a0012c0022t0007others(6): Show | a0004c0042t0002g0013a0006c0011t0005g0127a0006c0011t0005g0164others(11): Show | 14 | 368 | 0.0380 | -7 | c.284 others(24): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 23/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
A2ML1_chr12_8817621_8881787 | 8873599 | TATACACA | T | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02055.hp1 others(13): Show |
a0004a0010a0015others(3): Show | a0004c0014a0004c0040a0004c0064others(6): Show | a0004c0014t0004a0004c0040t0004a0004c0064t0002others(6): Show | a0004c0014t0004g0159a0004c0014t0004g0215a0004c0014t0004g0237others(13): Show | 16 | 368 | 0.0435 | -7 | c.422 others(24): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 33/35 | chr12 | TogoVar | ||||||
A3GALT2_chr1_33301766_33326098 | 33308750 | GTTTTTTT | G | intron_variant | MODIFIER | HG02280.hp1 HG03516.hp2 HG03579.hp2 others(3): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0000a0001c0014t0000 | a0001c0001t0000g0015a0001c0001t0000g0127a0001c0001t0000g0159others(1): Show | 6 | 418 | 0.0144 | -7 | c.336 others(24): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53304861 | GTTTTTTT | G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG01074.hp1 others(11): Show |
a0001 | a0001c0001a0001c0007a0001c0010 | a0001c0001t0001a0001c0007t0001a0001c0010t0001 | a0001c0001t0001g0009a0001c0001t0001g0024a0001c0001t0001g0050others(10): Show | 14 | 330 | 0.0424 | -7 | c.*26 others(18): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2598 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125110188 | TTTGTGTG | T | intron_variant | MODIFIER | HG03491.hp1 HG03540.hp2 NA19090.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0097a0001c0001t0001g0228a0002c0002t0001g0118 | 3 | 364 | 0.0082 | -7 | c.915 others(24): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125125807 | ATGGCCAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(158): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(24): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(155): Show | 161 | 364 | 0.4423 | -7 | c.130 others(24): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AAGAB_chr15_67195667_67259661 | 67242429 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG01175.hp1 others(28): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0008a0002c0002t0002 | a0001c0001t0002g0028a0001c0001t0002g0040a0001c0001t0002g0041others(27): Show | 31 | 380 | 0.0816 | -7 | c.74- others(22): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77830987 | CAAAAAAA | C | intron_variant | MODIFIER | HG01081.hp1 HG02257.hp2 HG02572.hp2 others(13): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0076a0001c0002t0001g0078a0001c0002t0001g0079others(13): Show | 16 | 382 | 0.0419 | -7 | c.-19 others(24): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMP_chr2_218259129_218275137 | 218267958 | GGTTTTTT | G | intron_variant | MODIFIER | HG02717.hp1 HG02809.hp1 HG03041.hp2 others(7): Show |
a0001a0004a0005 | a0001c0001a0004c0006a0005c0008 | a0001c0001t0001a0001c0001t0003a0004c0006t0001others(1): Show | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0003g0030others(2): Show | 10 | 400 | 0.0250 | -7 | c.275 others(22): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 2/10 | chr2 | TogoVar | ||||||
AAMP_chr2_218259129_218275137 | 218273263 | GTTTTGTT | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG01109.hp2 others(57): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(10): Show | 60 | 400 | 0.1500 | -7 | c.-31 others(18): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 3127 | chr2 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36258861 | AAAAAAAC | A | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01261.hp2 HG01361.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0006a0001c0002t0001g0035a0001c0002t0001g0178others(7): Show | 14 | 298 | 0.0470 | -7 | c.*31 others(18): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1929 | chr20 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42957476 | CTTTTTTT | C | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0070a0001c0001t0001g0071 | 6 | 324 | 0.0185 | -7 | c.332 others(22): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967167 | TTATATAA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(156): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0010others(3): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(70): Show | 159 | 324 | 0.4907 | -7 | c.-27 others(18): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2714 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967202 | TTATATAA | T | upstream_gene_variant | MODIFIER | HG02615.hp1 NA18522.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0072 | 3 | 324 | 0.0093 | -7 | c.-27 others(18): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2749 | chr17 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122078532 | AACCTGGG | A | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG00639.hp2 others(49): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0023others(39): Show | 52 | 384 | 0.1354 | -7 | c.248 others(24): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 22/23 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122141658 | CAAAAAAA | C | intron_variant | MODIFIER | HG00621.hp2 HG01069.hp2 HG01192.hp2 others(32): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0156a0001c0001t0001g0157a0001c0001t0003g0167others(21): Show | 35 | 384 | 0.0912 | -7 | c.-16 others(24): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 36968234 | TTTTTTTC | T | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(78): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0014a0001c0001t0001g0024a0001c0001t0001g0025others(77): Show | 81 | 245 | 0.3306 | -7 | c.832 others(26): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATK_chr17_81112295_81171221 | 81140759 | AGCCGTGG | A | intron_variant | MODIFIER | HG00621.hp2 HG01074.hp2 HG02895.hp2 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0011a0002c0064others(3): Show | a0001c0001t0001a0001c0011t0001a0002c0064t0001others(3): Show | a0001c0001t0001g0305a0001c0011t0001g0267a0001c0011t0001g0272others(15): Show | 18 | 368 | 0.0489 | -7 | c.56- others(22): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81141937 | TTCCTTCC | T | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG03471.hp2 others(1): Show |
a0014a0019a0020 | a0014c0028a0019c0067a0020c0068 | a0014c0028t0001a0019c0067t0004a0020c0068t0004 | a0014c0028t0001g0342a0014c0028t0001g0343a0019c0067t0004g0333others(1): Show | 4 | 368 | 0.0109 | -7 | c.56- others(22): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8724739 | AAAAAAAC | A | intron_variant | MODIFIER | HG01106.hp2 HG02074.hp2 HG02155.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0021others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(7): Show | a0001c0001t0001g0246a0001c0001t0001g0280a0001c0001t0002g0149others(10): Show | 13 | 362 | 0.0359 | -7 | c.-41 others(26): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8749386 | CTTTTTTT | C | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02630.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0006others(6): Show | a0001c0001t0001g0338a0001c0001t0002g0296a0002c0002t0006g0169others(7): Show | 10 | 362 | 0.0276 | -7 | c.199 others(24): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8754663 | TTTATTTA | T | intron_variant | MODIFIER | HG00099.hp1 HG01106.hp2 HG03540.hp1 |
a0002 | a0002c0002a0002c0006 | a0002c0002t0002a0002c0002t0032a0002c0006t0002 | a0002c0002t0002g0020a0002c0002t0032g0157a0002c0006t0002g0348 | 3 | 362 | 0.0083 | -7 | c.317 others(24): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCA12_chr2_214926542_215143626 | 215103263 | CTTTCTTT | C | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02896.hp1 others(4): Show |
a0002a0004a0008 | a0002c0007a0002c0057a0004c0018others(2): Show | a0002c0007t0006a0002c0057t0006a0004c0018t0021others(2): Show | a0002c0007t0006g0175a0002c0007t0006g0176a0002c0057t0006g0177others(4): Show | 7 | 198 | 0.0354 | -7 | c.163 others(24): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48243029 | CTGAGGTG | C | intron_variant | MODIFIER | HG02258.hp2 HG03453.hp2 |
a0047a0048 | a0047c0040a0048c0041 | a0047c0040t0001a0048c0041t0004 | a0047c0040t0001g0009a0048c0041t0004g0039 | 2 | 178 | 0.0112 | -7 | c.126 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 10/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48419543 | CGTAACAT | C | intron_variant | MODIFIER | HG01123.hp2 HG02523.hp2 HG03654.hp1 others(11): Show |
a0001a0006a0008others(6): Show | a0001c0001a0001c0010a0001c0103others(9): Show | a0001c0001t0001a0001c0010t0001a0001c0103t0006others(9): Show | a0001c0001t0001g0081a0001c0010t0001g0066a0001c0103t0006g0059others(11): Show | 14 | 178 | 0.0787 | -7 | c.124 others(28): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48573328 | ATTTGTTT | A | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp2 others(44): Show |
a0001a0005a0006others(23): Show | a0001c0001a0005c0005a0005c0024others(29): Show | a0001c0001t0002a0005c0005t0003a0005c0024t0003others(31): Show | a0001c0001t0002g0065a0005c0005t0003g0090a0005c0005t0003g0102others(44): Show | 47 | 178 | 0.2640 | -7 | c.143 others(28): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA1_chr9_104776006_104933155 | 104882028 | TAAAAAAA | T | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00609.hp1 others(72): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0005a0001c0035others(39): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(64): Show | a0001c0001t0004g0194a0001c0001t0006g0058a0001c0001t0006g0225others(72): Show | 75 | 318 | 0.2359 | -7 | c.421 others(24): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2315839 | CTTTTTTT | C | intron_variant | MODIFIER | HG01515.hp2 HG02300.hp2 HG02615.hp2 others(2): Show |
a0001a0012 | a0001c0001a0012c0012 | a0001c0001t0001a0001c0001t0013a0012c0012t0001 | a0001c0001t0001g0128a0001c0001t0001g0129a0001c0001t0001g0143others(2): Show | 5 | 252 | 0.0198 | -7 | c.111 others(26): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94124142 | TTTTTTTG | T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00639.hp1 others(32): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0007a0001c0009others(17): Show | a0001c0001t0001a0001c0007t0001a0001c0009t0001others(17): Show | a0001c0001t0001g0155a0001c0001t0001g0239a0001c0001t0001g0247others(31): Show | 35 | 306 | 0.1144 | -7 | c.-31 others(18): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 2995 | chr1 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68904293 | ATAATAAT | A | intron_variant | MODIFIER | HG00733.hp1 HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0033a0001c0004t0001g0195a0001c0004t0001g0210 | 3 | 274 | 0.0110 | -7 | c.239 others(24): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 19/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68934700 | GAGTTATA | G | intron_variant | MODIFIER | HG01496.hp1 NA18953.hp1 NA18994.hp2 others(2): Show |
a0001a0006 | a0001c0003a0006c0038 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(1): Show | a0001c0003t0001g0101a0001c0003t0002g0100a0001c0003t0003g0097others(2): Show | 5 | 274 | 0.0183 | -7 | c.467 others(24): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168972328 | CAGTAAAG | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(183): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(33): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(59): Show | a0001c0001t0001g0048a0001c0001t0001g0073a0001c0001t0001g0074others(182): Show | 186 | 306 | 0.6078 | -7 | c.143 others(24): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 13/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 169012748 | AAAAAAAG | A | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG02486.hp1 others(7): Show |
a0002a0003a0004others(1): Show | a0002c0055a0003c0050a0004c0009others(3): Show | a0002c0055t0018a0003c0050t0009a0004c0009t0004others(6): Show | a0002c0055t0018g0099a0003c0050t0009g0100a0004c0009t0004g0101others(7): Show | 10 | 306 | 0.0327 | -7 | c.389 others(22): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 5/27 | chr2 | TogoVar | ||||||
ABCB1_chr7_87498017_87605884 | 87602292 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01071.hp1 HG01167.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0010 | a0001c0001t0003a0001c0001t0010a0001c0001t0015others(3): Show | a0001c0001t0003g0001a0001c0001t0003g0024a0001c0001t0003g0027others(8): Show | 12 | 352 | 0.0341 | -7 | c.-15 others(18): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 1409 | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20656906 | CTTTTTCT | C | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01071.hp2 others(25): Show |
a0002a0007a0010others(8): Show | a0002c0003a0002c0012a0002c0035others(15): Show | a0002c0003t0003a0002c0012t0001a0002c0035t0005others(17): Show | a0002c0003t0003g0015a0002c0012t0001g0084a0002c0012t0001g0088others(25): Show | 28 | 360 | 0.0778 | -7 | c.153 others(26): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20716676 | AGGAATGG | A | intron_variant | MODIFIER | NA19012.hp2 NA19067.hp2 NA19082.hp2 |
a0002 | a0002c0014 | a0002c0014t0001a0002c0014t0003 | a0002c0014t0001g0234a0002c0014t0001g0235a0002c0014t0003g0002 | 3 | 360 | 0.0083 | -7 | c.242 others(26): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB7_chrX_75046048_75161283 | 75104047 | GTTTTTTT | G | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 232 | 0.0043 | -7 | c.334 others(24): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75115410 | CTTTTTTT | C | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 232 | 0.0043 | -7 | c.169 others(22): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75148116 | AAAAAAAT | A | intron_variant | MODIFIER | HG02055.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0230a0001c0001t0013g0231 | 2 | 232 | 0.0086 | -7 | c.168 others(24): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75155692 | GAATTGCT | G | intron_variant | MODIFIER | HG02055.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0230a0001c0001t0013g0231 | 2 | 232 | 0.0086 | -7 | c.168 others(22): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ABCC11_chr16_48160773_48252539 | 48207858 | CCCCACTG | C | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01243.hp1 others(6): Show |
a0001a0016 | a0001c0001a0001c0003a0016c0038 | a0001c0001t0001a0001c0003t0001a0016c0038t0016 | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0001t0001g0072others(6): Show | 9 | 158 | 0.0570 | -7 | c.168 others(24): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 12/29 | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16026432 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(51): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(19): Show | a0001c0001t0003g0061a0001c0001t0004g0166a0001c0001t0004g0240others(51): Show | 54 | 249 | 0.2169 | -7 | c.616 others(24): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 5/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16047710 | ACCCTCAG | A | intron_variant | MODIFIER | HG03139.hp1 HG03139.hp2 NA18522.hp2 |
a0001a0003 | a0001c0001a0003c0024 | a0001c0001t0005a0003c0024t0021 | a0001c0001t0005g0024a0001c0001t0005g0025a0003c0024t0021g0003 | 3 | 249 | 0.0121 | -7 | c.121 others(24): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 9/30 | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16137545 | CTTTTTTT | C | intron_variant | MODIFIER | HG01496.hp1 HG02280.hp1 HG02622.hp1 others(5): Show |
a0001a0004a0009 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0006a0001c0001t0017a0001c0002t0006others(4): Show | a0001c0001t0006g0167a0001c0001t0006g0220a0001c0001t0017g0023others(5): Show | 8 | 249 | 0.0321 | -7 | c.429 others(24): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 29/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC2_chr10_99777640_99857594 | 99783984 | GCCCACCC | G | intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01109.hp2 others(1): Show |
a0001a0021 | a0001c0002a0021c0026 | a0001c0002t0003a0001c0002t0006a0021c0026t0006 | a0001c0002t0003g0018a0001c0002t0006g0016a0001c0002t0006g0017others(1): Show | 4 | 336 | 0.0119 | -7 | c.34- others(20): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50653357 | AAAAAAAG | A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 NA18947.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0139a0001c0001t0001g0140others(3): Show | 6 | 342 | 0.0175 | -7 | c.46- others(22): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50673980 | CTCTCTCT | C | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 NA18952.hp2 |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0002a0001c0003t0001a0003c0005t0002 | a0001c0001t0002g0281a0001c0003t0001g0234a0003c0005t0002g0302 | 3 | 342 | 0.0088 | -7 | c.259 others(24): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | chr17 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95032670 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(133): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(86): Show | a0001c0001t0001g0154a0001c0001t0001g0173a0001c0001t0001g0198others(133): Show | 136 | 248 | 0.5484 | -7 | c.387 others(26): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95164051 | AAAAAAAG | A | intron_variant | MODIFIER | HG01243.hp1 HG01981.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0003a0001c0007a0001c0010others(2): Show | a0001c0003t0001a0001c0007t0019a0001c0010t0024others(2): Show | a0001c0003t0001g0036a0001c0007t0019g0026a0001c0010t0024g0024others(2): Show | 5 | 248 | 0.0202 | -7 | c.217 others(24): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 16/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95193146 | AGAGTCTG | A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00609.hp1 others(20): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0014a0001c0017others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0008others(9): Show | a0001c0001t0001g0064a0001c0001t0001g0163a0001c0001t0001g0211others(20): Show | 23 | 248 | 0.0927 | -7 | c.126 others(26): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 9/30 | chr13 | TogoVar |