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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP5S1_chr20_3815547_3833838 | 3817008 | TTTTTTTG | T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(64): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0031 others(14): Show |
67 | 410 | 0.1634 | -7 | c.-37 others(18): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 3538 | chr20 | TogoVar | |||||||
AP5Z1_chr7_4770623_4799397 | 4776562 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG01070.hp2 HG02109.hp1 others(21): Show |
a0001a0003a0009others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0049a0001c0002t0003others(11): Show | a0001c0001t0001g0048 a0001c0001t0049g0082 a0001c0002t0003g0017 others(16): Show |
24 | 222 | 0.1081 | -7 | c.41+ others(20): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4789985 | CCCCCTCT | C | intron_variant | MODIFIER | HG02922.hp1 HG03225.hp2 HG03471.hp1 others(1): Show |
a0003a0010a0019 | a0003c0004a0010c0013a0019c0029 | a0003c0004t0007a0010c0013t0021a0010c0013t0045others(1): Show | a0003c0004t0007g0095 a0010c0013t0021g0029 a0010c0013t0045g0029 others(1): Show |
4 | 338 | 0.0118 | -7 | c.180 others(22): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653656 | CAAAAAAA | C | intron_variant | MODIFIER | HG01192.hp2 HG01346.hp1 HG01516.hp1 others(26): Show |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0144 others(26): Show |
29 | 257 | 0.1128 | -7 | c.526 others(24): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69543276 | TCCCCCCC | T | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG01074.hp1 others(53): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(7): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0040 others(53): Show |
56 | 61 | 0.9180 | -7 | c.-69 others(26): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 29023441 | CTTTTTTT | C | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02622.hp2 others(6): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0010 | a0001c0001t0008a0001c0001t0012a0001c0001t0033others(4): Show | a0001c0001t0008g0163 a0001c0001t0012g0199 a0001c0001t0033g0152 others(6): Show |
9 | 30 | 0.3000 | -7 | c.-41 others(26): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29056603 | TCCCTCCC | T | intron_variant | MODIFIER | HG01358.hp1 HG01934.hp1 HG01978.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0066 a0001c0001t0001g0085 a0001c0001t0002g0195 |
3 | 202 | 0.0149 | -7 | c.951 others(24): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | chr15 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 29116054 | GAGCTCCC | G | intron_variant | MODIFIER | HG03209.hp2 HG03579.hp2 |
a0002 | a0002c0002a0002c0017 | a0002c0002t0003a0002c0017t0034 | a0002c0002t0003g0101 a0002c0017t0034g0177 |
2 | 202 | 0.0099 | -7 | c.217 others(26): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 14/14 | chr15 | TogoVar | |||||||
APBA3_chr19_3745772_3766692 | 3747671 | GAGGCTCC | G | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02486.hp1 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0001a0003c0006others(3): Show | a0001c0002t0002a0002c0001t0003a0003c0006t0002others(4): Show | a0001c0002t0002g0028 a0001c0002t0002g0061 a0001c0002t0002g0062 others(11): Show |
20 | 448 | 0.0446 | -7 | c.*33 others(18): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 3100 | chr19 | TogoVar | |||||||
APBB1IP_chr10_26433341_26572803 | 26445129 | AAAGAAAG | A | intron_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG01069.hp1 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(40): Show |
43 | 274 | 0.1569 | -7 | c.-1+ others(22): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26497721 | ATTTTTTT | A | intron_variant | MODIFIER | HG00673.hp1 HG01175.hp1 HG01346.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0031 a0001c0001t0001g0048 a0001c0001t0001g0061 others(24): Show |
27 | 165 | 0.1636 | -7 | c.160 others(24): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40861811 | GTTTTCTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(72): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(40): Show | a0001c0002t0001g0039 a0001c0002t0001g0070 a0001c0002t0001g0101 others(72): Show |
75 | 190 | 0.3947 | -7 | c.152 others(28): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40922628 | TGAGATAG | T | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02486.hp1 others(6): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0001others(1): Show | a0001c0003t0001a0001c0004t0006a0002c0001t0003others(6): Show | a0001c0003t0001g0106 a0001c0004t0006g0160 a0002c0001t0003g0151 others(6): Show |
9 | 190 | 0.0474 | -7 | c.125 others(28): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40928421 | CACACACA | C | intron_variant | MODIFIER | HG00438.hp2 HG01993.hp1 HG02165.hp2 others(8): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0022others(8): Show | a0001c0002t0002g0098 a0001c0002t0004g0028 a0001c0002t0022g0031 others(8): Show |
11 | 190 | 0.0579 | -7 | c.125 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40948890 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01169.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0004 | a0001c0004t0003g0044 a0001c0004t0004g0045 a0001c0004t0004g0046 others(2): Show |
5 | 10 | 0.5000 | -7 | c.836 others(24): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40961667 | TAAAAAAA | T | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG01069.hp2 others(10): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0002a0001c0002t0022a0001c0003t0003others(8): Show | a0001c0002t0002g0098 a0001c0002t0022g0031 a0001c0003t0003g0138 others(10): Show |
13 | 15 | 0.8667 | -7 | c.836 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40982332 | AAGGAAGG | A | intron_variant | MODIFIER | HG01192.hp1 NA18522.hp1 |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0052a0002c0001t0057 | a0001c0004t0052g0093 a0002c0001t0057g0074 |
2 | 159 | 0.0126 | -7 | c.835 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40982380 | AAGGAAGG | A | intron_variant | MODIFIER | HG01516.hp2 HG01993.hp1 |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0003a0002c0001t0003 | a0001c0004t0003g0103 a0002c0001t0003g0049 |
2 | 186 | 0.0108 | -7 | c.835 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 41079549 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp2 others(47): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0002a0001c0002t0017a0001c0002t0018others(35): Show | a0001c0002t0002g0119 a0001c0002t0017g0094 a0001c0002t0017g0095 others(47): Show |
50 | 172 | 0.2907 | -7 | c.-14 others(28): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 41161170 | CAAAAAAA | C | intron_variant | MODIFIER | HG01258.hp2 HG02647.hp1 HG02738.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0043a0001c0003t0003a0002c0001t0027others(2): Show | a0001c0002t0043g0169 a0001c0003t0003g0138 a0002c0001t0027g0018 others(2): Show |
5 | 69 | 0.0725 | -7 | c.-41 others(28): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
APC_chr5_112732885_112851239 | 112758313 | GTTTGTTT | G | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG00642.hp2 others(98): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(6): Show | a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 others(98): Show |
101 | 292 | 0.3459 | -7 | c.135 others(24): Show |
APC | ENSG00000134982.18 | transcript | ENST00000257430.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
APC_chr5_112732885_112851239 | 112836009 | CTTTTTTT | C | intron_variant | MODIFIER | HG00741.hp2 HG01496.hp2 HG02056.hp1 others(24): Show |
a0001a0005 | a0001c0003a0001c0019a0001c0026others(1): Show | a0001c0003t0002a0001c0003t0006a0001c0003t0010others(3): Show | a0001c0003t0002g0004 a0001c0003t0002g0043 a0001c0003t0002g0044 others(24): Show |
27 | 101 | 0.2673 | -7 | c.195 others(24): Show |
APC | ENSG00000134982.18 | transcript | ENST00000257430.9 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
APLF_chr2_68462585_68585162 | 68469014 | GTGTGTGT | G | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02886.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0039 others(5): Show |
8 | 168 | 0.0476 | -7 | c.96+ others(22): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
APLF_chr2_68462585_68585162 | 68542135 | ATATAACT | A | intron_variant | MODIFIER | HG01167.hp2 HG02055.hp1 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0024 a0002c0002t0008g0025 a0002c0002t0008g0026 |
3 | 174 | 0.0172 | -7 | c.116 others(26): Show |
APLF | ENSG00000169621.11 | transcript | ENST00000303795.9 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
APOA1_chr11_116830751_116842622 | 116831242 | TTTCTTTC | T | downstream_gene_variant | MODIFIER | NA18949.hp1 NA18956.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 446 | 0.0067 | -7 | c.*45 others(18): Show |
APOA1 | ENSG00000118137.10 | transcript | ENST00000236850.5 | protein_coding | 4508 | chr11 | TogoVar | |||||||
APOA2_chr1_161217292_161228628 | 161221660 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00597.hp1 others(94): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
97 | 154 | 0.6299 | -7 | c.*73 others(16): Show |
APOA2 | ENSG00000158874.11 | transcript | ENST00000367990.7 | protein_coding | 631 | chr1 | TogoVar | |||||||
APOA2_chr1_161217292_161228628 | 161225919 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00558.hp1 others(94): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show |
97 | 143 | 0.6783 | -7 | c.-23 others(18): Show |
APOA2 | ENSG00000158874.11 | transcript | ENST00000367990.7 | protein_coding | 2292 | chr1 | TogoVar | |||||||
APOC1_chr19_44909608_44924346 | 44923310 | TAAATAAA | T | downstream_gene_variant | MODIFIER | HG01099.hp1 HG02615.hp2 NA18950.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0132 |
4 | 434 | 0.0092 | -7 | c.*40 others(18): Show |
APOC1 | ENSG00000130208.10 | transcript | ENST00000592535.6 | protein_coding | 3965 | chr19 | TogoVar | |||||||
APOC3_chr11_116824907_116838072 | 116831242 | TTTCTTTC | T | intron_variant | MODIFIER | NA18949.hp1 NA18956.hp2 NA18998.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 3 | 448 | 0.0067 | -7 | c.179 others(22): Show |
APOC3 | ENSG00000110245.12 | transcript | ENST00000227667.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
APOD_chr3_195563705_195588940 | 195583853 | AAAAGCTT | A | intron_variant | MODIFIER | HG01934.hp1 HG01975.hp1 HG02723.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0031 a0001c0001t0002g0261 a0001c0001t0003g0262 others(5): Show |
13 | 436 | 0.0298 | -7 | c.-35 others(20): Show |
APOD | ENSG00000189058.9 | transcript | ENST00000343267.8 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
APOH_chr17_66207033_66234415 | 66224485 | AAAAAAAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00673.hp2 others(28): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0022 others(22): Show |
31 | 384 | 0.0807 | -7 | c.339 others(22): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
APOL5_chr22_35712872_35734483 | 35718593 | CAAAAAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG01243.hp1 HG01891.hp1 others(27): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0063 a0001c0004t0001g0005 a0001c0004t0001g0121 others(10): Show |
30 | 130 | 0.2308 | -7 | c.55+ others(20): Show |
APOL5 | ENSG00000128313.2 | transcript | ENST00000249044.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
APOOL_chrX_84998877_85098315 | 85088316 | GTTTTTTT | G | 3_prime_UTR_variant | MODIFIER | HG02257.hp1 HG02486.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0031 | a0001c0001t0017g0119 a0001c0001t0017g0120 a0001c0001t0017g0191 others(2): Show |
5 | 53 | 0.0943 | -7 | c.*66 others(16): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 661 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
APOO_chrX_23828353_23912938 | 23878714 | TCTTGCTA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(262): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(262): Show |
265 | 267 | 0.9925 | -7 | c.237 others(22): Show |
APOO | ENSG00000184831.14 | transcript | ENST00000379226.9 | protein_coding | 3/8 | chrX | TogoVar | |||||||
APPBP2_chr17_60438158_60531242 | 60438834 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0027 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | 59 | 0.1356 | -7 | c.*87 others(18): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4323 | chr17 | TogoVar | |||||||
APPBP2_chr17_60438158_60531242 | 60450785 | GAAAGAAA | G | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0002a0002c0002t0009a0002c0002t0014others(10): Show | a0001c0001t0002g0041 a0001c0001t0002g0117 a0002c0002t0009g0011 others(24): Show |
27 | 144 | 0.1875 | -7 | c.150 others(26): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | TogoVar | |||||||
APPBP2_chr17_60438158_60531242 | 60475234 | CAAAAACA | C | intron_variant | MODIFIER | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | 144 | 0.0556 | -7 | c.503 others(24): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
APPBP2_chr17_60438158_60531242 | 60495432 | TTTATTTA | T | intron_variant | MODIFIER | HG01891.hp1 HG02886.hp1 HG02896.hp1 others(5): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0014a0002c0002t0019a0002c0003t0007others(1): Show | a0002c0002t0014g0020 a0002c0002t0019g0023 a0002c0003t0007g0008 others(5): Show |
8 | 143 | 0.0559 | -7 | c.228 others(22): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | TogoVar | |||||||
APPL2_chr12_105168300_105241174 | 105196425 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00609.hp2 others(73): Show |
a0001a0011 | a0001c0001a0001c0003a0011c0014 | a0001c0001t0003a0001c0001t0009a0001c0001t0014others(3): Show | a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0049 others(71): Show |
76 | 94 | 0.8085 | -7 | c.105 others(24): Show |
APPL2 | ENSG00000136044.12 | transcript | ENST00000258530.8 | protein_coding | 11/20 | chr12 | TogoVar | |||||||
APTX_chr9_32967616_33006628 | 32988685 | GGAAAAAA | G | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 others(3): Show |
6 | 281 | 0.0214 | -7 | c.134 others(22): Show |
APTX | ENSG00000137074.20 | transcript | ENST00000379817.7 | protein_coding | 2/7 | chr9 | TogoVar | |||||||
AQP10_chr1_154316093_154330325 | 154320285 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00733.hp1 HG01106.hp1 others(29): Show |
a0001a0005 | a0001c0003a0005c0009 | a0001c0003t0001a0001c0003t0003a0005c0009t0001 | a0001c0003t0001g0002 a0001c0003t0001g0009 a0001c0003t0003g0002 others(1): Show |
32 | 166 | 0.1928 | -7 | c.-87 others(16): Show |
AQP10 | ENSG00000143595.13 | transcript | ENST00000324978.8 | protein_coding | 807 | chr1 | TogoVar | |||||||
AQP4_chr18_26847043_26870707 | 26852285 | ATTGTGAT | A | 3_prime_UTR_variant | MODIFIER | HG02083.hp2 NA18963.hp1 NA18990.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0043 a0001c0001t0011g0044 a0001c0001t0011g0115 |
5 | 436 | 0.0115 | -7 | c.*39 others(18): Show |
AQP4 | ENSG00000171885.18 | transcript | ENST00000383168.9 | protein_coding | 5/5 | 3919 | chr18 | TogoVar | ||||||
AQP8_chr16_25211947_25233932 | 25230519 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 a0001c0001t0003g0073 a0001c0001t0003g0162 others(3): Show |
8 | 297 | 0.0269 | -7 | c.*20 others(18): Show |
AQP8 | ENSG00000103375.11 | transcript | ENST00000219660.6 | protein_coding | 1588 | chr16 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34858320 | CAAAAAAA | C | intron_variant | MODIFIER | HG00558.hp2 HG02129.hp1 HG02165.hp2 others(9): Show |
a0001 | a0001c0001a0001c0007a0001c0022 | a0001c0001t0002a0001c0001t0021a0001c0001t0030others(3): Show | a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0021g0279 others(8): Show |
12 | 28 | 0.4286 | -7 | c.414 others(26): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 34/34 | chr15 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34933223 | CAGAAGTT | C | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02451.hp1 others(5): Show |
a0001 | a0001c0008a0001c0011 | a0001c0008t0018a0001c0008t0043a0001c0008t0047others(4): Show | a0001c0008t0018g0177 a0001c0008t0018g0178 a0001c0008t0043g0176 others(5): Show |
8 | 310 | 0.0258 | -7 | c.784 others(22): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 10/34 | chr15 | TogoVar | |||||||
ARAF_chrX_47556205_47576908 | 47576240 | AGACAAAG | A | downstream_gene_variant | MODIFIER | HG00735.hp1 HG02717.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0006 a0001c0001t0001g0087 a0001c0001t0004g0068 |
4 | 316 | 0.0127 | -7 | c.*47 others(18): Show |
ARAF | ENSG00000078061.14 | transcript | ENST00000377045.9 | protein_coding | 4333 | chrX | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36161793 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(136): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0015 a0001c0001t0001g0040 a0001c0001t0001g0050 others(135): Show |
139 | 142 | 0.9789 | -7 | c.217 others(24): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 11/32 | chr4 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36204987 | CAAAAAAA | C | intron_variant | MODIFIER | HG03195.hp1 HG03195.hp2 HG03209.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0078 others(3): Show |
6 | 19 | 0.3158 | -7 | c.148 others(26): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 6/32 | chr4 | TogoVar | |||||||
ARAP3_chr5_141648402_141687230 | 141683101 | GTGTTTGT | G | upstream_gene_variant | MODIFIER | HG01256.hp1 HG03139.hp2 NA19030.hp1 |
a0001 | a0001c0005a0001c0007a0001c0008 | a0001c0005t0001a0001c0007t0001a0001c0008t0001 | a0001c0005t0001g0143 a0001c0007t0001g0060 a0001c0008t0001g0066 |
3 | 311 | 0.0096 | -7 | c.-95 others(16): Show |
ARAP3 | ENSG00000120318.16 | transcript | ENST00000239440.9 | protein_coding | 872 | chr5 | TogoVar | |||||||
ARCN1_chr11_118567409_118608033 | 118578874 | CTTTTTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00609.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0010 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0002t0002g0043 others(13): Show |
16 | 22 | 0.7273 | -7 | c.4-2 others(20): Show |
ARCN1 | ENSG00000095139.15 | transcript | ENST00000264028.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |