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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALDH18A1_chr10_95600941_95661711 | 95637967 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01358.hp1 HG02083.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0234a0001c0001t0001g0235a0002c0002t0003g0055others(2): Show | 5 | 372 | 0.0134 | -9 | c.304 others(24): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 3/17 | chr10 | TogoVar | ||||||
ALDH18A1_chr10_95600941_95661711 | 95648320 | TTCATCAT others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(140): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(95): Show | 143 | 372 | 0.3844 | -9 | c.88+ others(24): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 2/17 | chr10 | TogoVar | ||||||
ALDH18A1_chr10_95600941_95661711 | 95655128 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031a0001c0001t0003g0120 | 3 | 372 | 0.0081 | -9 | c.-29 others(26): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 1/17 | chr10 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105059267 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00621.hp1 others(69): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0038a0001c0001t0001g0040others(68): Show | 72 | 386 | 0.1865 | -9 | c.114 others(28): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 9/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105064114 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00733.hp2 HG01106.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0021others(16): Show | 19 | 386 | 0.0492 | -9 | c.787 others(26): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 6/22 | chr12 | TogoVar | ||||||
ALDH3A2_chr17_19643751_19682596 | 19649337 | TCCTTTTC others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01516.hp1 HG01517.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0004a0001c0003t0004a0001c0005t0019 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0045others(9): Show | 15 | 366 | 0.0410 | -9 | c.153 others(24): Show |
ALDH3A2 | ENSG00000072210.19 | transcript | ENST00000176643.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALDH4A1_chr1_18866430_18907555 | 18866622 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00735.hp2 others(26): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0136a0001c0001t0003g0020a0001c0001t0003g0022others(23): Show | 29 | 406 | 0.0714 | -9 | c.*62 others(20): Show |
ALDH4A1 | ENSG00000159423.17 | transcript | ENST00000375341.8 | protein_coding | 4807 | chr1 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24526961 | TATATGTG others(2): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02258.hp2 HG02630.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0005a0002c0002t0020 | a0001c0001t0002g0351a0002c0002t0005g0059a0002c0002t0005g0063others(4): Show | 7 | 368 | 0.0190 | -9 | c.117 others(28): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
ALG1L2_chr3_130076831_130103390 | 130080282 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00639.hp2 others(45): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0052a0001c0001t0001g0056others(20): Show | 48 | 261 | 0.1839 | -9 | c.-17 others(20): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1548 | chr3 | TogoVar | ||||||
ALG5_chr13_36944738_37004340 | 36992210 | ATATTTCC others(2): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG03516.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042a0001c0001t0001g0190a0001c0001t0001g0191 | 3 | 276 | 0.0109 | -9 | c.354 others(26): Show |
ALG5 | ENSG00000120697.10 | transcript | ENST00000239891.4 | protein_coding | 4/9 | chr13 | TogoVar | ||||||
ALG8_chr11_78095946_78144626 | 78119419 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00597.hp2 others(88): Show |
a0001a0006a0008 | a0001c0001a0001c0003a0006c0007others(1): Show | a0001c0001t0001a0001c0003t0001a0006c0007t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(74): Show | 91 | 402 | 0.2264 | -9 | c.479 others(24): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 4/12 | chr11 | TogoVar | ||||||
ALG9_chr11_111777195_111876581 | 111783945 | TGACAAAA others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00558.hp2 others(74): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0003g0010a0001c0001t0003g0013a0001c0001t0003g0210others(73): Show | 77 | 314 | 0.2452 | -9 | c.*24 others(20): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 15/15 | 2443 | chr11 | TogoVar | |||||
ALKBH4_chr7_102451238_102469863 | 102462955 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(107): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0015others(1): Show | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0010others(29): Show | 110 | 404 | 0.2723 | -9 | c.123 others(26): Show |
ALKBH4 | ENSG00000160993.4 | transcript | ENST00000292566.4 | protein_coding | 1/2 | chr7 | TogoVar | ||||||
ALKBH4_chr7_102451238_102469863 | 102466760 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02615.hp1 others(5): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0004 | a0001c0001t0003a0003c0005t0003a0004c0004t0003 | a0001c0001t0003g0012a0001c0001t0003g0151a0001c0001t0003g0153others(2): Show | 8 | 404 | 0.0198 | -9 | c.-19 others(20): Show |
ALKBH4 | ENSG00000160993.4 | transcript | ENST00000292566.4 | protein_coding | 1898 | chr7 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29235856 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp2 HG02895.hp2 others(2): Show |
a0002a0003a0005 | a0002c0047a0003c0010a0003c0034others(2): Show | a0002c0047t0001a0003c0010t0006a0003c0034t0002others(2): Show | a0002c0047t0001g0055a0003c0010t0006g0001a0003c0034t0002g0071others(2): Show | 5 | 80 | 0.0625 | -9 | c.235 others(28): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 13/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29522228 | GTTACTTA others(2): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02970.hp1 |
a0005a0008 | a0005c0013a0008c0057 | a0005c0013t0004a0008c0057t0002 | a0005c0013t0004g0020a0008c0057t0002g0023 | 2 | 80 | 0.0250 | -9 | c.115 others(28): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29776225 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0027a0001c0033others(14): Show | a0001c0004t0001a0001c0027t0001a0001c0033t0001others(14): Show | a0001c0004t0001g0037a0001c0027t0001g0013a0001c0033t0001g0029others(19): Show | 22 | 80 | 0.2750 | -9 | c.668 others(28): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29830955 | AAAGAAGA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01074.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0009a0001c0033a0002c0001others(4): Show | a0001c0009t0005a0001c0033t0001a0002c0001t0001others(4): Show | a0001c0009t0005g0054a0001c0033t0001g0029a0002c0001t0001g0062others(4): Show | 7 | 80 | 0.0875 | -9 | c.667 others(28): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73408864 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01433.hp2 HG01928.hp2 others(10): Show |
a0005 | a0005c0005a0005c0058 | a0005c0005t0001a0005c0058t0001 | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(10): Show | 13 | 248 | 0.0524 | -9 | c.450 others(24): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73423623 | AGTAACCT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(110): Show |
a0002a0004a0005others(26): Show | a0002c0004a0002c0011a0002c0020others(41): Show | a0002c0004t0001a0002c0011t0001a0002c0020t0001others(41): Show | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(110): Show | 113 | 248 | 0.4557 | -9 | c.764 others(24): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73438988 | TTCTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(85): Show |
a0002a0004a0009others(19): Show | a0002c0004a0002c0011a0002c0020others(33): Show | a0002c0004t0001a0002c0011t0001a0002c0020t0001others(33): Show | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(85): Show | 88 | 248 | 0.3548 | -9 | c.143 others(28): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73488140 | GTCTGCCA others(2): Show |
G | intron_variant | MODIFIER | HG02886.hp2 NA19240.hp2 NA20129.hp1 |
a0021a0043 | a0021c0029a0043c0062 | a0021c0029t0001a0043c0062t0001 | a0021c0029t0001g0119a0021c0029t0001g0121a0043c0062t0001g0120 | 3 | 248 | 0.0121 | -9 | c.767 others(28): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73588367 | GTGCCCCA others(2): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(34): Show |
a0005a0006a0008others(6): Show | a0005c0005a0005c0058a0006c0007others(8): Show | a0005c0005t0001a0005c0058t0001a0006c0007t0001others(8): Show | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(34): Show | 37 | 248 | 0.1492 | -9 | c.115 others(32): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8040643 | GAAAGAAA others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00597.hp2 others(22): Show |
a0002a0006a0007others(1): Show | a0002c0002a0006c0011a0006c0045others(3): Show | a0002c0002t0002a0002c0002t0006a0002c0002t0011others(5): Show | a0002c0002t0002g0005a0002c0002t0002g0034a0002c0002t0002g0052others(13): Show | 25 | 470 | 0.0532 | -9 | c.449 others(24): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX5AP_chr13_30730543_30769426 | 30741103 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(82): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0016others(58): Show | 85 | 422 | 0.2014 | -9 | c.71- others(24): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ALPG_chr2_232401844_232415714 | 232405108 | ATTTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(51): Show |
a0004a0012a0013others(1): Show | a0004c0004a0012c0020a0013c0027others(1): Show | a0004c0004t0002a0004c0004t0008a0012c0020t0002others(2): Show | a0004c0004t0002g0004a0004c0004t0002g0007a0004c0004t0002g0013others(5): Show | 54 | 434 | 0.1244 | -9 | c.-17 others(20): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 1735 | chr2 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58512911 | GTATGTGT others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00733.hp2 others(7): Show |
a0002a0013a0015others(2): Show | a0002c0002a0013c0009a0015c0013others(2): Show | a0002c0002t0003a0013c0009t0003a0013c0009t0006others(4): Show | a0002c0002t0003g0148a0002c0002t0003g0180a0002c0002t0003g0318others(7): Show | 10 | 320 | 0.0313 | -9 | c.602 others(28): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 10/12 | chr18 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84838600 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02615.hp2 others(2): Show |
a0005 | a0005c0015a0005c0045 | a0005c0015t0008a0005c0045t0008 | a0005c0015t0008g0005a0005c0015t0008g0068a0005c0045t0008g0005 | 5 | 340 | 0.0147 | -9 | c.305 others(24): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALX4_chr11_44255440_44315139 | 44293152 | GAAGGAAG others(2): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG02818.hp1 HG04228.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0002t0030a0001c0002t0055others(1): Show | a0001c0001t0001g0250a0001c0002t0030g0204a0001c0002t0055g0255others(1): Show | 4 | 388 | 0.0103 | -9 | c.466 others(28): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46585049 | ACTGTGCT others(2): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG02818.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0061a0001c0001t0001g0127others(1): Show | 4 | 160 | 0.0250 | -9 | c.-12 others(28): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46585692 | AAAAATAT others(2): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01981.hp2 HG02602.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0034a0001c0001t0001g0067a0001c0001t0001g0075others(2): Show | 5 | 160 | 0.0313 | -9 | c.-12 others(28): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46585694 | AAATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG01361.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0082others(7): Show | 10 | 160 | 0.0625 | -9 | c.-12 others(28): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46595535 | TAAAAAAA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02723.hp1 HG02723.hp2 HG02976.hp2 others(4): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0001a0001c0002t0002a0005c0007t0001 | a0001c0001t0001g0061a0001c0001t0001g0130a0001c0001t0001g0131others(4): Show | 7 | 160 | 0.0438 | -9 | c.-18 others(20): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1513 | chr11 | TogoVar | ||||||
AMER3_chr2_130750540_130773134 | 130756280 | CGCGGCGC others(2): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(31): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0023others(9): Show | 34 | 360 | 0.0944 | -9 | c.-20 others(24): Show |
AMER3 | ENSG00000178171.12 | transcript | ENST00000321420.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AMFR_chr16_56356452_56430545 | 56361753 | TAAAAAAA others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG01928.hp1 NA18981.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0025a0001c0001t0057 | a0001c0001t0019g0241a0001c0001t0019g0246a0001c0001t0019g0256others(3): Show | 6 | 356 | 0.0169 | -9 | c.*11 others(20): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 14/14 | 1147 | chr16 | TogoVar | |||||
AMMECR1_chrX_110189186_110323085 | 110232889 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02738.hp1 HG03490.hp1 NA18984.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097a0001c0001t0001g0104a0001c0001t0001g0105others(2): Show | 5 | 155 | 0.0323 | -9 | c.585 others(28): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 2/5 | chrX | TogoVar | ||||||
AMMECR1_chrX_110189186_110323085 | 110262155 | TGATGCTA others(2): Show |
T | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 155 | 0.0065 | -9 | c.584 others(26): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 2/5 | chrX | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112840981 | AGGAGTGA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02602.hp2 HG03927.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0031 | a0001c0002t0002g0190a0001c0002t0031g0210 | 2 | 270 | 0.0074 | -9 | c.-82 others(18): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 151 | chrX | TogoVar | ||||||
AMPD3_chr11_10450264_10512579 | 10488466 | TGAGAGAG others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(177): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0012a0001c0001t0001g0024a0001c0001t0001g0027others(161): Show | 180 | 390 | 0.4615 | -9 | c.939 others(26): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AMPH_chr7_38378704_38636373 | 38441877 | TATCATAT others(2): Show |
T | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0004 | a0001c0001t0004g0086a0001c0005t0004g0013a0001c0005t0004g0139 | 3 | 288 | 0.0104 | -9 | c.101 others(28): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 11/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38580658 | GGATGATG others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0048a0001c0001t0001g0082a0001c0001t0001g0098others(46): Show | 49 | 288 | 0.1701 | -9 | c.70- others(26): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMZ1_chr7_2683202_2724683 | 2715681 | AGAGAAAT others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00733.hp2 others(55): Show |
a0001a0002a0012others(1): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0010a0001c0001t0028a0001c0001t0055others(26): Show | a0001c0001t0010g0017a0001c0001t0028g0286a0001c0001t0055g0343others(54): Show | 58 | 438 | 0.1324 | -9 | c.*28 others(20): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 7/7 | 2805 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
ANAPC16_chr10_72211012_72240860 | 72218166 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG03130.hp1 NA18973.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0084a0001c0001t0001g0123a0001c0001t0002g0239others(3): Show | 6 | 352 | 0.0171 | -9 | c.-28 others(26): Show |
ANAPC16 | ENSG00000166295.9 | transcript | ENST00000299381.5 | protein_coding | 1/3 | chr10 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111846550 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG02056.hp2 NA19240.hp1 |
a0001a0006 | a0001c0006a0001c0009a0006c0021 | a0001c0006t0005a0001c0009t0003a0006c0021t0005 | a0001c0006t0005g0031a0001c0009t0003g0352a0006c0021t0005g0014 | 3 | 370 | 0.0081 | -9 | c.185 others(26): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 16/47 | chr2 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111846551 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02056.hp1 others(14): Show |
a0001a0009a0011 | a0001c0001a0001c0006a0001c0009others(3): Show | a0001c0001t0003a0001c0006t0005a0001c0009t0003others(3): Show | a0001c0001t0003g0339a0001c0001t0003g0340a0001c0001t0003g0341others(14): Show | 17 | 370 | 0.0460 | -9 | c.185 others(26): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 16/47 | chr2 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111864329 | AGATGATG others(2): Show |
A | intron_variant | MODIFIER | HG02129.hp1 NA18947.hp2 NA18950.hp2 others(3): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0003a0001c0004t0017a0001c0006t0005 | a0001c0004t0003g0158a0001c0004t0003g0176a0001c0004t0003g0177others(3): Show | 6 | 370 | 0.0162 | -9 | c.832 others(24): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 8/47 | chr2 | TogoVar | ||||||
ANAPC5_chr12_121303245_121357411 | 121339868 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01168.hp2 HG01169.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0013others(36): Show | 44 | 278 | 0.1583 | -9 | c.657 others(26): Show |
ANAPC5 | ENSG00000089053.13 | transcript | ENST00000261819.8 | protein_coding | 5/16 | chr12 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110368308 | GAAAAAAA others(2): Show |
G | downstream_gene_variant | MODIFIER | HG01943.hp1 HG02055.hp1 HG02055.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0001g0083others(7): Show | 10 | 298 | 0.0336 | -9 | c.*58 others(20): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 4591 | chr12 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107299700 | CTATACTA others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02970.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0027 | a0001c0001t0010g0092a0001c0001t0010g0187a0001c0001t0027g0227 | 3 | 292 | 0.0103 | -9 | c.936 others(26): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 5/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107459489 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00597.hp1 others(73): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0109a0001c0001t0001g0112a0001c0001t0001g0120others(72): Show | 76 | 292 | 0.2603 | -9 | c.297 others(28): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar |