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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0003g0012 a0001c0001t0003g0151 a0001c0001t0003g0153 others(2): Show |
8 | 21 | 0.3810 | -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 | a0002c0047t0001g0055 a0003c0010t0006g0001 a0003c0034t0002g0071 others(2): Show |
5 | 24 | 0.2083 | -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 |
a0005a0007 | a0005c0013a0007c0057 | a0005c0013t0004a0007c0057t0002 | a0005c0013t0004g0020 a0007c0057t0002g0023 |
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 | a0001c0004t0001g0037 a0001c0027t0001g0013 a0001c0033t0001g0029 others(19): Show |
22 | 30 | 0.7333 | -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 | a0001c0009t0005g0054 a0001c0033t0001g0029 a0002c0001t0001g0062 others(4): Show |
7 | 31 | 0.2258 | -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 | a0005c0005t0001g0106 a0005c0005t0001g0107 a0005c0005t0001g0108 others(10): Show |
13 | 123 | 0.1057 | -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 |
a0001a0004a0005others(6): Show | a0001c0003a0001c0004a0001c0011others(41): Show | a0001c0003t0002a0001c0004t0001a0001c0011t0001others(41): Show | a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 others(110): Show |
113 | 246 | 0.4594 | -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 |
a0001a0008a0013others(1): Show | a0001c0003a0001c0004a0001c0011others(33): Show | a0001c0003t0002a0001c0004t0001a0001c0011t0001others(33): Show | a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 others(85): Show |
88 | 246 | 0.3577 | -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 |
a0008a0012 | a0008c0062a0012c0029 | a0008c0062t0001a0012c0029t0001 | a0008c0062t0001g0121 a0012c0029t0001g0119 a0012c0029t0001g0120 |
3 | 246 | 0.0122 | -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 |
a0004a0005a0010others(2): Show | a0004c0007a0004c0008a0004c0010others(8): Show | a0004c0007t0001a0004c0008t0001a0004c0010t0001others(8): Show | a0004c0007t0001g0096 a0004c0007t0001g0098 a0004c0007t0001g0099 others(34): Show |
37 | 246 | 0.1504 | -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 | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0025 others(13): Show |
25 | 468 | 0.0534 | -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 | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 others(54): Show |
85 | 88 | 0.9659 | -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 | a0004c0004a0012c0027a0013c0020others(1): Show | a0004c0004t0002a0004c0004t0008a0012c0027t0002others(2): Show | a0004c0004t0002g0004 a0004c0004t0002g0007 a0004c0004t0002g0013 others(5): Show |
54 | 292 | 0.1849 | -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 |
a0001a0006a0032 | a0001c0002a0001c0081a0006c0009others(2): Show | a0001c0002t0003a0001c0081t0005a0006c0009t0003others(4): Show | a0001c0002t0003g0148 a0001c0002t0003g0182 a0001c0002t0003g0318 others(7): Show |
10 | 318 | 0.0314 | -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 | a0005c0015t0008g0005 a0005c0015t0008g0077 a0005c0045t0008g0005 |
5 | 300 | 0.0167 | -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 | a0001c0001t0001g0242 a0001c0002t0030g0220 a0001c0002t0055g0248 others(1): Show |
4 | 386 | 0.0104 | -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 | a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0127 others(1): Show |
4 | 158 | 0.0253 | -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 | a0001c0001t0001g0035 a0001c0001t0001g0067 a0001c0001t0001g0075 others(2): Show |
5 | 158 | 0.0316 | -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 | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0073 others(7): Show |
10 | 156 | 0.0641 | -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 | a0001c0001t0001g0061 a0001c0001t0001g0129 a0001c0001t0001g0133 others(4): Show |
7 | 10 | 0.7000 | -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 |
a0001a0002a0016 | a0001c0001a0002c0002a0016c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0022 others(9): Show |
34 | 358 | 0.0950 | -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 | a0001c0001t0019g0241 a0001c0001t0019g0246 a0001c0001t0019g0256 others(3): Show |
6 | 67 | 0.0896 | -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 | a0001c0001t0001g0013 a0001c0001t0001g0090 a0001c0001t0001g0099 others(1): Show |
5 | 107 | 0.0467 | -9 | c.585 others(28): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 2/5 | chrX | TogoVar | |||||||
AMPD3_chr11_10450264_10512579 | 10488466 | TGAGAGAG others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(176): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0027 others(160): Show |
179 | 388 | 0.4613 | -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 | a0001c0001t0004g0087 a0001c0005t0004g0013 a0001c0005t0004g0138 |
3 | 286 | 0.0105 | -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(45): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0048 a0001c0001t0001g0081 a0001c0001t0001g0102 others(45): Show |
48 | 240 | 0.2000 | -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 |
a0001a0002a0021others(1): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0008a0001c0001t0031a0001c0001t0038others(24): Show | a0001c0001t0008g0027 a0001c0001t0031g0276 a0001c0001t0038g0055 others(53): Show |
58 | 436 | 0.1330 | -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(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0224 a0001c0001t0002g0010 others(3): Show |
6 | 316 | 0.0190 | -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 |
a0001a0002 | a0001c0006a0001c0009a0002c0022 | a0001c0006t0005a0001c0009t0003a0002c0022t0005 | a0001c0006t0005g0031 a0001c0009t0003g0354 a0002c0022t0005g0013 |
3 | 341 | 0.0088 | -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 |
a0001a0005a0007 | a0001c0001a0001c0006a0001c0009others(3): Show | a0001c0001t0003a0001c0006t0005a0001c0009t0003others(3): Show | a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0342 others(14): Show |
17 | 343 | 0.0496 | -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 | a0001c0004t0003g0158 a0001c0004t0003g0176 a0001c0004t0003g0177 others(3): Show |
6 | 133 | 0.0451 | -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 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0014 others(35): Show |
44 | 183 | 0.2404 | -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 | a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 others(7): Show |
10 | 125 | 0.0800 | -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 | a0001c0001t0010g0093 a0001c0001t0010g0182 a0001c0001t0027g0227 |
3 | 290 | 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(9): Show | a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0122 others(72): Show |
76 | 147 | 0.5170 | -9 | c.297 others(28): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
ANGPTL3_chr1_62592520_62611313 | 62604866 | AGTTAATG others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(107): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0011 others(9): Show |
110 | 364 | 0.3022 | -9 | c.*52 others(16): Show |
ANGPTL3 | ENSG00000132855.5 | transcript | ENST00000371129.4 | protein_coding | 7/7 | 52 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ANGPTL4_chr19_8359155_8379370 | 8363565 | CTCTTTTC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02145.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 | 7 | 406 | 0.0172 | -9 | c.-75 others(18): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 589 | chr19 | TogoVar | |||||||
ANGPTL6_chr19_10087338_10107678 | 10088953 | TATAATAA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01975.hp2 HG03654.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0017 a0001c0003t0001g0053 a0001c0003t0001g0054 |
5 | 189 | 0.0265 | -9 | c.*36 others(20): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 3384 | chr19 | TogoVar | |||||||
ANHX_chr12_133213312_133240877 | 133237276 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00639.hp1 others(55): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0173 others(39): Show |
58 | 70 | 0.8286 | -9 | c.-15 others(20): Show |
ANHX | ENSG00000227059.7 | transcript | ENST00000545940.6 | protein_coding | 1400 | chr12 | TogoVar | |||||||
ANK1_chr8_41648225_41802622 | 41683226 | GGACAGTG others(2): Show |
G | intron_variant | MODIFIER | HG02074.hp1 NA18950.hp2 NA19010.hp1 others(1): Show |
a0001a0003 | a0001c0028a0003c0015 | a0001c0028t0003a0003c0015t0003 | a0001c0028t0003g0066 a0003c0015t0003g0136 a0003c0015t0003g0214 others(1): Show |
4 | 276 | 0.0145 | -9 | c.453 others(28): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 37/42 | chr8 | TogoVar | |||||||
ANK1_chr8_41648225_41802622 | 41693417 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG02818.hp2 HG03491.hp2 others(5): Show |
a0001a0003a0008others(2): Show | a0001c0002a0001c0025a0003c0024others(3): Show | a0001c0002t0001a0001c0025t0011a0003c0024t0003others(3): Show | a0001c0002t0001g0157 a0001c0002t0001g0216 a0001c0025t0011g0002 others(4): Show |
8 | 17 | 0.4706 | -9 | c.353 others(26): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 29/42 | chr8 | TogoVar | |||||||
ANK2_chr4_113044653_113388736 | 113063159 | TTTGAGCC others(2): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01255.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 a0001c0001t0001g0092 |
2 | 176 | 0.0114 | -9 | c.84+ others(26): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | chr4 | TogoVar | |||||||
ANK2_chr4_113044653_113388736 | 113186578 | CTCTCTCT others(2): Show |
C | intron_variant | MODIFIER | HG01952.hp2 HG01975.hp2 HG02486.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0004t0001a0002c0003t0001 | a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0143 others(3): Show |
6 | 176 | 0.0341 | -9 | c.187 others(26): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 2/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60104357 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01070.hp2 HG01071.hp2 others(52): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0007others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 others(52): Show |
55 | 69 | 0.7971 | -9 | c.332 others(28): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 28/43 | chr10 | TogoVar | |||||||
ANKAR_chr2_189669670_189751647 | 189742972 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG02165.hp2 NA19030.hp1 NA19064.hp1 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0138 a0001c0001t0001g0179 a0004c0006t0001g0286 |
3 | 293 | 0.0102 | -9 | c.381 others(26): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64951394 | CCTCTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(70): Show |
a0001a0002a0005 | a0001c0002a0002c0003a0002c0005others(3): Show | a0001c0002t0002a0002c0003t0002a0002c0005t0002others(3): Show | a0001c0002t0002g0147 a0001c0002t0002g0150 a0001c0002t0002g0151 others(66): Show |
73 | 336 | 0.2173 | -9 | c.148 others(28): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64952928 | TTCTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(69): Show |
a0001a0002a0005 | a0001c0002a0002c0003a0002c0005others(3): Show | a0001c0002t0002a0002c0003t0002a0002c0005t0002others(3): Show | a0001c0002t0002g0147 a0001c0002t0002g0150 a0001c0002t0002g0151 others(65): Show |
72 | 336 | 0.2143 | -9 | c.148 others(28): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64953714 | GTTCTTCT others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(186): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0013others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(176): Show |
189 | 335 | 0.5642 | -9 | c.148 others(28): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64954001 | TTTCTTCT others(2): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02572.hp2 HG03710.hp2 others(3): Show |
a0001a0004 | a0001c0004a0004c0007 | a0001c0004t0003a0004c0007t0003 | a0001c0004t0003g0149 a0001c0004t0003g0182 a0001c0004t0003g0183 others(3): Show |
6 | 336 | 0.0179 | -9 | c.148 others(28): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | chr15 | TogoVar | |||||||
ANKDD1A_chr15_64906902_64963691 | 64954588 | TTCCTTCT others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG02145.hp2 HG02280.hp1 others(10): Show |
a0001 | a0001c0002a0001c0015 | a0001c0002t0002a0001c0015t0002 | a0001c0002t0002g0042 a0001c0002t0002g0130 a0001c0002t0002g0170 others(10): Show |
13 | 336 | 0.0387 | -9 | c.148 others(28): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |