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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACER3_chr11_76855918_77031797 | 77010163 | A | AAATAAT | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG00735.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0012others(14): Show | a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0144 others(27): Show |
30 | 115 | 0.2609 | 6 | c.498 others(23): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 77025392 | T | TTATATA | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(70): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(17): Show | a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0140 others(70): Show |
73 | 180 | 0.4056 | 6 | c.*50 others(17): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | 5085 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 77025408 | A | ATATATT | 3_prime_UTR_variant | MODIFIER | HG02129.hp1 HG03041.hp2 HG03471.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0037a0001c0001t0074a0001c0001t0089others(1): Show | a0001c0001t0037g0099 a0001c0001t0037g0128 a0001c0001t0074g0129 others(2): Show |
5 | 333 | 0.0150 | 6 | c.*50 others(17): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | 5085 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACE_chr17_63472061_63503373 | 63477132 | T | TGCTGCC | disruptive_inframe_insertion | MODERATE | HG01884.hp2 HG01891.hp2 HG02280.hp2 others(5): Show |
a0003a0009 | a0003c0012a0003c0020a0009c0019 | a0003c0012t0001a0003c0020t0001a0009c0019t0001 | a0003c0012t0001g0010 a0003c0012t0001g0051 a0003c0020t0001g0010 others(2): Show |
8 | 372 | 0.0215 | 6 | c.50_ others(11): Show |
p.Pro others(11): Show |
ACE | ENSG00000159640.17 | transcript | ENST00000290866.10 | protein_coding | 1/25 | 90/4962 | 56/3921 | 19/1306 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
ACIN1_chr14_23053564_23100136 | 23057673 | G | GGGCGGA | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01256.hp2 HG01258.hp2 others(26): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0002others(9): Show | a0001c0001t0001g0219 a0001c0001t0001g0229 a0001c0001t0001g0231 others(24): Show |
29 | 336 | 0.0863 | 6 | c.*14 others(17): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 890 | chr14 | TogoVar | |||||||
ACIN1_chr14_23053564_23100136 | 23064896 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp2 others(70): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0001a0001c0007t0002a0002c0002t0001others(10): Show | a0001c0001t0001g0169 a0001c0001t0001g0237 a0001c0001t0001g0271 others(60): Show |
73 | 179 | 0.4078 | 6 | c.230 others(23): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 10/18 | chr14 | TogoVar | |||||||
ACIN1_chr14_23053564_23100136 | 23079574 | A | AGAACGT | disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(176): Show |
a0002a0003a0005others(3): Show | a0002c0002a0002c0003a0002c0016others(12): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(17): Show | a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0030 others(152): Show |
179 | 343 | 0.5219 | 6 | c.175 others(15): Show |
p.Ser others(19): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 6/19 | 1784/4460 | 1760/3852 | 587/1283 | chr14 | TogoVar | |||
ACIN1_chr14_23053564_23100136 | 23079578 | C | CGTGAAT | conservative_inframe_insertion | MODERATE | HG00639.hp1 HG00738.hp2 HG00741.hp1 others(24): Show |
a0003a0004 | a0003c0022a0004c0006a0004c0008 | a0003c0022t0001a0004c0006t0001a0004c0008t0002others(1): Show | a0003c0022t0001g0098 a0004c0006t0001g0004 a0004c0006t0001g0015 others(19): Show |
27 | 348 | 0.0776 | 6 | c.175 others(15): Show |
p.Ser others(19): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 6/19 | 1780/4460 | 1756/3852 | 586/1283 | chr14 | TogoVar | |||
ACIN1_chr14_23053564_23100136 | 23085353 | G | GAACAAC | intron_variant | MODIFIER | HG00558.hp2 HG02074.hp2 HG02818.hp1 others(11): Show |
a0003a0008a0013 | a0003c0010a0003c0013a0003c0015others(2): Show | a0003c0010t0001a0003c0010t0003a0003c0013t0001others(3): Show | a0003c0010t0001g0147 a0003c0010t0001g0148 a0003c0010t0001g0149 others(11): Show |
14 | 348 | 0.0402 | 6 | c.437 others(23): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 4/18 | chr14 | TogoVar | |||||||
ACKR2_chr3_42804445_42872286 | 42812680 | C | CTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG00741.hp1 others(34): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(4): Show | a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0180 others(34): Show |
37 | 42 | 0.8810 | 6 | c.-11 others(25): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACKR2_chr3_42804445_42872286 | 42816189 | C | CGTGTGT | intron_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG02559.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0006a0002c0002t0004others(1): Show | a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0006g0069 others(3): Show |
6 | 44 | 0.1364 | 6 | c.-11 others(25): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACKR2_chr3_42804445_42872286 | 42825577 | A | ATGTGTG | intron_variant | MODIFIER | HG02683.hp2 HG02818.hp2 HG03209.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0066 a0001c0001t0001g0186 a0002c0002t0004g0047 |
3 | 113 | 0.0265 | 6 | c.-38 others(23): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACKR2_chr3_42804445_42872286 | 42828074 | T | TTATATA | intron_variant | MODIFIER | HG01109.hp1 HG01168.hp2 HG02559.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0004 | a0001c0001t0001g0052 a0001c0001t0001g0098 a0002c0002t0002g0057 others(1): Show |
4 | 200 | 0.0200 | 6 | c.-38 others(23): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACKR2_chr3_42804445_42872286 | 42860164 | C | CAAAAAA | intron_variant | MODIFIER | HG01192.hp1 HG01934.hp1 HG02698.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0058 others(8): Show |
12 | 125 | 0.0960 | 6 | c.-37 others(23): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACKR2_chr3_42804445_42872286 | 42860189 | A | AAAAAAC | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00738.hp1 others(53): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004a0002c0002t0009others(5): Show | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0023 others(50): Show |
56 | 289 | 0.1938 | 6 | c.-37 others(23): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
ACLY_chr17_41861918_41923951 | 41875428 | G | GTCTCCC | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG00733.hp2 others(28): Show |
a0002a0005 | a0002c0002a0005c0014 | a0002c0002t0002a0002c0002t0003a0002c0002t0010others(1): Show | a0002c0002t0002g0252 a0002c0002t0003g0260 a0002c0002t0003g0261 others(28): Show |
31 | 288 | 0.1076 | 6 | c.248 others(25): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 22/28 | chr17 | TogoVar | |||||||
ACLY_chr17_41861918_41923951 | 41879647 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG01106.hp2 HG02293.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0079 others(7): Show |
10 | 21 | 0.4762 | 6 | c.226 others(23): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 20/28 | chr17 | TogoVar | |||||||
ACLY_chr17_41861918_41923951 | 41887127 | G | GAAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG01106.hp1 HG01361.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0264 a0002c0002t0003g0276 a0002c0002t0003g0279 others(4): Show |
7 | 23 | 0.3043 | 6 | c.187 others(23): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 17/28 | chr17 | TogoVar | |||||||
ACLY_chr17_41861918_41923951 | 41889524 | C | CAAAAAA | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00642.hp1 others(47): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0057 others(47): Show |
50 | 58 | 0.8621 | 6 | c.177 others(25): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 16/28 | chr17 | TogoVar | |||||||
ACMSD_chr2_134833616_134907034 | 134845509 | G | GTCTCTC | intron_variant | MODIFIER | HG01070.hp1 HG01257.hp2 HG01515.hp2 others(17): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0001a0004c0005t0001 | a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0034 others(16): Show |
20 | 79 | 0.2532 | 6 | c.102 others(21): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134860856 | C | CAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp2 HG02027.hp1 others(33): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0006 | a0001c0001t0001a0003c0003t0001a0006c0006t0001 | a0001c0001t0001g0025 a0001c0001t0001g0056 a0001c0001t0001g0103 others(32): Show |
36 | 103 | 0.3495 | 6 | c.200 others(23): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134871678 | G | GACACAC | intron_variant | MODIFIER | HG01978.hp2 HG02717.hp2 HG03098.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0092 others(10): Show |
13 | 172 | 0.0756 | 6 | c.676 others(21): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134871682 | G | GACACAC | intron_variant | MODIFIER | HG00741.hp1 HG02559.hp1 HG02809.hp2 |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0001a0008c0008t0001 | a0001c0001t0001g0022 a0001c0001t0001g0027 a0008c0008t0001g0327 |
3 | 71 | 0.0423 | 6 | c.676 others(21): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134903715 | T | TTTGTTG | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01358.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 a0001c0001t0001g0322 a0001c0001t0001g0323 others(12): Show |
15 | 83 | 0.1807 | 6 | c.*18 others(17): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 1682 | chr2 | TogoVar | |||||||
ACO1_chr9_32379643_32459769 | 32457493 | A | AAAAAAG | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01099.hp1 HG01109.hp2 others(15): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0028 | a0001c0001t0007a0001c0001t0081a0001c0001t0108others(4): Show | a0001c0001t0007g0030 a0001c0001t0007g0039 a0001c0001t0007g0053 others(14): Show |
18 | 299 | 0.0602 | 6 | c.*73 others(17): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 2725 | chr9 | TogoVar | |||||||
ACOT11_chr1_54543228_54615329 | 54551732 | G | GTTTTGT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00544.hp2 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0019a0001c0024others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0021 a0001c0001t0001g0128 a0001c0001t0001g0289 others(33): Show |
37 | 365 | 0.1014 | 6 | c.33+ others(21): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54554290 | A | AGTGTGT | intron_variant | MODIFIER | HG01167.hp1 HG01934.hp2 HG01978.hp1 others(15): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0077 a0001c0001t0002g0146 a0001c0001t0002g0184 others(15): Show |
18 | 250 | 0.0720 | 6 | c.33+ others(21): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54614939 | G | GGTGTGT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(116): Show |
a0001a0002a0005 | a0001c0001a0001c0009a0001c0024others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0009t0001others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 others(115): Show |
119 | 222 | 0.5360 | 6 | c.*58 others(17): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 4611 | chr1 | TogoVar | |||||||
ACOT12_chr5_81324996_81399134 | 81395918 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01516.hp2 HG01975.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0103 others(8): Show |
11 | 38 | 0.2895 | 6 | c.-18 others(17): Show |
ACOT12 | ENSG00000172497.9 | transcript | ENST00000307624.8 | protein_coding | 1785 | chr5 | TogoVar | |||||||
ACOT1_chr14_73532143_73548796 | 73537935 | C | CTGTGTG | intron_variant | MODIFIER | HG02109.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 146 | 0.0137 | 6 | c.457 others(19): Show |
ACOT1 | ENSG00000184227.8 | transcript | ENST00000311148.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ACOT2_chr14_73564213_73580655 | 73576816 | A | AAAAAAG | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00609.hp2 others(98): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 101 | 155 | 0.6516 | 6 | c.*13 others(17): Show |
ACOT2 | ENSG00000119673.16 | transcript | ENST00000238651.10 | protein_coding | 1162 | chr14 | TogoVar | |||||||
ACOT7_chr1_6259272_6398767 | 6299665 | A | AGTGTGT | intron_variant | MODIFIER | HG02630.hp1 HG03669.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0017 | a0001c0001t0004g0221 a0001c0005t0017g0224 |
2 | 145 | 0.0138 | 6 | c.713 others(23): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 6/8 | chr1 | TogoVar | |||||||
ACOT7_chr1_6259272_6398767 | 6306207 | A | AGAGGGG | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01070.hp2 others(126): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0011 a0001c0001t0001g0033 a0001c0001t0001g0034 others(125): Show |
129 | 224 | 0.5759 | 6 | c.713 others(25): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 6/8 | chr1 | TogoVar | |||||||
ACOT7_chr1_6259272_6398767 | 6336333 | C | CAAAAAA | intron_variant | MODIFIER | HG01074.hp1 HG01175.hp2 HG02257.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0132 a0001c0001t0003g0164 a0001c0001t0004g0199 others(6): Show |
9 | 139 | 0.0647 | 6 | c.419 others(23): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
ACOT8_chr20_45836721_45862392 | 45838236 | A | ATTCTTT | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01070.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0009 a0001c0001t0001g0043 a0001c0001t0001g0118 others(2): Show |
12 | 369 | 0.0325 | 6 | c.*35 others(17): Show |
ACOT8 | ENSG00000101473.17 | transcript | ENST00000217455.9 | protein_coding | 3484 | chr20 | TogoVar | |||||||
ACOT9_chrX_23696055_23748276 | 23740717 | T | TACACAC | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp1 HG03927.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 others(5): Show |
8 | 11 | 0.7273 | 6 | c.20+ others(21): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 1/15 | chrX | TogoVar | |||||||
ACOT9_chrX_23696055_23748276 | 23742209 | T | TGAGAGA | intron_variant | MODIFIER | HG03041.hp2 HG03139.hp1 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018a0001c0001t0045 | a0001c0001t0002g0153 a0001c0001t0018g0155 a0001c0001t0045g0154 |
3 | 130 | 0.0231 | 6 | c.20+ others(19): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 1/15 | chrX | TogoVar | |||||||
ACOT9_chrX_23696055_23748276 | 23742213 | T | TGAGTGA | intron_variant | MODIFIER | HG01361.hp2 HG02622.hp1 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0037a0002c0003t0001 | a0001c0001t0037g0295 a0002c0003t0001g0012 |
3 | 75 | 0.0400 | 6 | c.20+ others(19): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 1/15 | chrX | TogoVar | |||||||
ACOX1_chr17_75936507_75984166 | 75977566 | A | AAAAAAC | intron_variant | MODIFIER | HG00423.hp2 HG02132.hp2 HG02273.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0004a0001c0001t0015a0001c0001t0034others(4): Show | a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0004g0312 others(18): Show |
21 | 342 | 0.0614 | 6 | c.269 others(21): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
ACOX2_chr3_58500136_58542190 | 58541624 | C | CTGTGTG | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01071.hp2 others(20): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(17): Show |
23 | 48 | 0.4792 | 6 | c.-45 others(17): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 4435 | chr3 | TogoVar | |||||||
ACOX3_chr4_8361282_8445723 | 8391031 | G | GTGTATA | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00733.hp2 others(70): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0025 others(68): Show |
73 | 176 | 0.4148 | 6 | c.130 others(25): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 11/17 | chr4 | TogoVar | |||||||
ACOX3_chr4_8361282_8445723 | 8393637 | G | GCACACA | intron_variant | MODIFIER | HG02145.hp2 HG02622.hp1 HG02970.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0004a0001c0002t0004a0001c0006t0003 | a0001c0001t0004g0236 a0001c0001t0004g0238 a0001c0002t0004g0276 others(5): Show |
8 | 318 | 0.0252 | 6 | c.117 others(23): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
ACOX3_chr4_8361282_8445723 | 8400250 | C | CAATAAT | intron_variant | MODIFIER | HG01070.hp2 HG01168.hp2 HG01169.hp1 others(28): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(7): Show | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0083 others(28): Show |
31 | 125 | 0.2480 | 6 | c.777 others(21): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 7/17 | chr4 | TogoVar | |||||||
ACOXL_chr2_110727573_111123548 | 110785370 | T | TTGTGTG | intron_variant | MODIFIER | HG01891.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0011 |
2 | 95 | 0.0211 | 6 | c.159 others(21): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 110811730 | T | TACACAC | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00544.hp2 others(20): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0036 others(20): Show |
23 | 39 | 0.5897 | 6 | c.753 others(23): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 110846641 | G | GCGCACA | intron_variant | MODIFIER | HG00140.hp2 NA18993.hp2 NA19088.hp2 |
a0001a0003 | a0001c0001a0001c0015a0003c0004 | a0001c0001t0001a0001c0015t0002a0003c0004t0001 | a0001c0001t0001g0085 a0001c0015t0002g0072 a0003c0004t0001g0092 |
3 | 25 | 0.1200 | 6 | c.788 others(23): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 110895667 | T | TAGAGAG | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(20): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0015a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0015t0002others(5): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(20): Show |
23 | 137 | 0.1679 | 6 | c.789 others(25): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 110900086 | T | TACACAC | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG02615.hp1 others(2): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0001a0002c0002t0002a0005c0007t0002 | a0002c0002t0001g0022 a0002c0002t0001g0113 a0002c0002t0002g0050 others(2): Show |
5 | 29 | 0.1724 | 6 | c.789 others(23): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 110950810 | G | GGAGAGA | intron_variant | MODIFIER | HG01167.hp1 HG01346.hp1 HG01891.hp2 others(11): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0095 others(11): Show |
14 | 81 | 0.1728 | 6 | c.105 others(27): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 110968778 | C | CAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01168.hp1 HG01255.hp1 others(10): Show |
a0001a0011 | a0001c0001a0001c0015a0011c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0056 others(10): Show |
13 | 64 | 0.2031 | 6 | c.106 others(27): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |