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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AHCYL2_chr7_129220030_129435211 | 129403898 | C | CTAT | intron_variant | MODIFIER | HG01123.hp2 HG02273.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0033 a0001c0001t0011g0290 a0001c0001t0011g0291 |
3 | 290 | 0.0103 | 3 | c.102 others(20): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 7/16 | chr7 | TogoVar | |||||||
AHCYL2_chr7_129220030_129435211 | 129414420 | C | CTTT | intron_variant | MODIFIER | HG01168.hp2 HG02055.hp2 HG02970.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0103 a0001c0001t0001g0279 a0001c0001t0002g0046 others(5): Show |
8 | 50 | 0.1600 | 3 | c.146 others(20): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27538400 | C | CAAA | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01255.hp2 others(8): Show |
a0002a0004 | a0002c0003a0004c0010 | a0002c0003t0001a0004c0010t0001 | a0002c0003t0001g0005 a0002c0003t0001g0009 a0002c0003t0001g0062 others(7): Show |
11 | 118 | 0.0932 | 3 | c.*44 others(20): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
AHDC1_chr1_27529245_27609144 | 27579044 | C | CTTT | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp1 HG02886.hp1 others(2): Show |
a0001a0007a0009 | a0001c0001a0001c0007a0007c0016others(1): Show | a0001c0001t0001a0001c0007t0005a0007c0016t0005others(1): Show | a0001c0001t0001g0155 a0001c0007t0005g0060 a0001c0007t0005g0099 others(2): Show |
5 | 136 | 0.0368 | 3 | c.-62 others(24): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
AHDC1_chr1_27529245_27609144 | 27602986 | T | TCCC | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02258.hp1 others(8): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0007a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0005others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0101 a0001c0001t0001g0102 others(7): Show |
11 | 122 | 0.0902 | 3 | c.-62 others(20): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135283016 | A | AAAG | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01928.hp2 others(21): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0002 | a0001c0001t0002g0042 a0001c0001t0002g0074 a0001c0001t0002g0084 others(21): Show |
24 | 218 | 0.1101 | 3 | c.*26 others(14): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 515 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135294698 | C | CAAA | intron_variant | MODIFIER | HG00639.hp1 HG01952.hp2 HG02040.hp2 others(4): Show |
a0001 | a0001c0001a0001c0006a0001c0013others(1): Show | a0001c0001t0002a0001c0006t0002a0001c0013t0007others(1): Show | a0001c0001t0002g0092 a0001c0001t0002g0099 a0001c0001t0002g0218 others(4): Show |
7 | 158 | 0.0443 | 3 | c.348 others(22): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 27/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135337770 | G | GAAA | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01891.hp1 others(6): Show |
a0001a0006 | a0001c0003a0001c0016a0001c0021others(1): Show | a0001c0003t0002a0001c0003t0004a0001c0003t0013others(3): Show | a0001c0003t0002g0219 a0001c0003t0004g0008 a0001c0003t0004g0009 others(6): Show |
9 | 78 | 0.1154 | 3 | c.316 others(24): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135376881 | C | CAAA | intron_variant | MODIFIER | HG01496.hp2 HG02056.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0136 a0001c0001t0002g0120 a0001c0001t0003g0033 others(2): Show |
5 | 40 | 0.1250 | 3 | c.310 others(24): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHNAK2_chr14_104932253_104983374 | 104963828 | T | TAAA | intron_variant | MODIFIER | HG01099.hp2 HG02257.hp1 HG02486.hp2 others(4): Show |
a0001a0020a0063others(3): Show | a0001c0001a0020c0110a0063c0111others(3): Show | a0001c0001t0001a0020c0110t0002a0063c0111t0002others(3): Show | a0001c0001t0001g0135 a0001c0001t0001g0136 a0020c0110t0002g0252 others(4): Show |
7 | 337 | 0.0208 | 3 | c.56- others(18): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
AHNAK2_chr14_104932253_104983374 | 104965401 | C | CAAA | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG01099.hp1 others(13): Show |
a0004a0010a0047others(1): Show | a0004c0006a0010c0012a0047c0094others(1): Show | a0004c0006t0004a0010c0012t0006a0047c0094t0013others(1): Show | a0004c0006t0004g0011 a0004c0006t0004g0016 a0004c0006t0004g0048 others(10): Show |
16 | 130 | 0.1231 | 3 | c.56- others(18): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
AHNAK_chr11_62510902_62551806 | 62536083 | T | TCTC | conservative_inframe_insertion | MODERATE | HG00408.hp1 HG01099.hp1 HG01106.hp2 others(36): Show |
a0002a0014 | a0002c0003a0002c0004a0002c0011others(8): Show | a0002c0003t0001a0002c0004t0001a0002c0004t0003others(9): Show | a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0026 others(16): Show |
39 | 184 | 0.2120 | 3 | c.13_ others(8): Show |
p.Glu others(4): Show |
AHNAK | ENSG00000124942.14 | transcript | ENST00000378024.9 | protein_coding | 3/5 | 261/18761 | 15/17673 | 5/5890 | chr11 | TogoVar | |||
AHRR_chr5_316714_443285 | 318214 | T | TACC | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01261.hp1 HG02145.hp1 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0024a0001c0001t0032a0002c0002t0007others(10): Show | a0001c0001t0024g0032 a0001c0001t0032g0226 a0002c0002t0007g0249 others(16): Show |
19 | 23 | 0.8261 | 3 | c.-36 others(14): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3499 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 318220 | C | CACT | upstream_gene_variant | MODIFIER | HG01192.hp2 HG02698.hp2 HG03540.hp2 others(1): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0007 | a0001c0001t0040a0001c0001t0044a0002c0002t0006others(1): Show | a0001c0001t0040g0055 a0001c0001t0044g0026 a0002c0002t0006g0020 others(1): Show |
4 | 257 | 0.0156 | 3 | c.-36 others(14): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3493 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 318415 | C | CAGG | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG01081.hp2 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0253 others(23): Show |
26 | 266 | 0.0977 | 3 | c.-34 others(14): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3298 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 328255 | A | ATTT | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp2 HG01192.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0002g0045 others(10): Show |
13 | 56 | 0.2321 | 3 | c.-11 others(20): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344961 | G | GGCT | intron_variant | MODIFIER | HG01081.hp1 HG02109.hp2 HG02145.hp2 others(2): Show |
a0003a0004a0006others(1): Show | a0003c0004a0004c0003a0006c0006others(1): Show | a0003c0004t0004a0004c0003t0022a0006c0006t0021others(1): Show | a0003c0004t0004g0014 a0004c0003t0022g0247 a0006c0006t0021g0245 others(2): Show |
5 | 266 | 0.0188 | 3 | c.62+ others(16): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344964 | T | TGTG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(156): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0008a0001c0009others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0152 others(154): Show |
159 | 260 | 0.6115 | 3 | c.62+ others(18): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 381506 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00673.hp1 others(32): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0161 a0001c0001t0002g0063 a0001c0001t0002g0183 others(32): Show |
35 | 120 | 0.2917 | 3 | c.351 others(20): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 397849 | T | TCCA | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG00741.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0029a0001c0001t0056a0002c0002t0006others(5): Show | a0001c0001t0029g0012 a0001c0001t0056g0175 a0002c0002t0006g0007 others(13): Show |
18 | 266 | 0.0677 | 3 | c.352 others(22): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 441497 | C | CTTT | downstream_gene_variant | MODIFIER | HG01099.hp2 HG02257.hp1 HG02895.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0009a0004c0003 | a0001c0001t0017a0001c0001t0049a0001c0009t0036others(2): Show | a0001c0001t0017g0035 a0001c0001t0049g0155 a0001c0009t0036g0033 others(2): Show |
5 | 17 | 0.2941 | 3 | c.*66 others(14): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3213 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 443229 | G | GGGC | downstream_gene_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01167.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0060others(1): Show | a0001c0001t0002g0027 a0001c0001t0002g0058 a0001c0001t0002g0097 others(10): Show |
13 | 59 | 0.2203 | 3 | c.*83 others(14): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4945 | chr5 | TogoVar | |||||||
AHR_chr7_17293652_17351147 | 17302810 | A | ATAT | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02145.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0037 | a0002c0002t0007g0014 a0002c0002t0007g0118 a0002c0002t0007g0119 others(3): Show |
8 | 351 | 0.0228 | 3 | c.65+ others(18): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
AHR_chr7_17293652_17351147 | 17317116 | G | GTTT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(66): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0019 others(47): Show |
69 | 74 | 0.9324 | 3 | c.254 others(20): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHSA1_chr14_77453093_77474472 | 77454675 | C | CAAA | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00544.hp2 others(151): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(61): Show |
154 | 174 | 0.8851 | 3 | c.-35 others(14): Show |
AHSA1 | ENSG00000100591.8 | transcript | ENST00000216479.8 | protein_coding | 3417 | chr14 | TogoVar | |||||||
AHSA1_chr14_77453093_77474472 | 77460994 | C | CTTT | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00733.hp1 others(34): Show |
a0001 | a0001c0002a0001c0003a0001c0008 | a0001c0002t0001a0001c0003t0001a0001c0008t0001 | a0001c0002t0001g0002 a0001c0002t0001g0016 a0001c0002t0001g0017 others(10): Show |
37 | 306 | 0.1209 | 3 | c.272 others(20): Show |
AHSA1 | ENSG00000100591.8 | transcript | ENST00000216479.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AHSG_chr3_186608060_186626318 | 186610561 | T | TTTG | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00735.hp1 others(11): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0006c0011t0001 | a0001c0001t0001g0007 a0001c0001t0001g0050 a0006c0011t0001g0049 |
14 | 431 | 0.0325 | 3 | c.-25 others(14): Show |
AHSG | ENSG00000145192.13 | transcript | ENST00000411641.7 | protein_coding | 2498 | chr3 | TogoVar | |||||||
AHSP_chr16_31522900_31533803 | 31531388 | C | CTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01106.hp1 HG01243.hp1 others(88): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0001 others(2): Show |
91 | 221 | 0.4118 | 3 | c.*26 others(14): Show |
AHSP | ENSG00000169877.10 | transcript | ENST00000302312.9 | protein_coding | 2586 | chr16 | TogoVar | |||||||
AIDA_chr1_222663013_222717491 | 222666701 | T | TGGG | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(276): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(203): Show |
279 | 312 | 0.8942 | 3 | c.*31 others(14): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 1311 | chr1 | TogoVar | |||||||
AIDA_chr1_222663013_222717491 | 222700971 | T | TTGG | intron_variant | MODIFIER | HG02602.hp1 HG03017.hp1 HG03834.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0019 a0001c0001t0001g0061 a0001c0001t0001g0062 others(3): Show |
7 | 158 | 0.0443 | 3 | c.180 others(20): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
AIF1L_chr9_131091531_131128144 | 131115449 | C | CAAA | intron_variant | MODIFIER | HG01952.hp1 HG02027.hp2 HG02523.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0068 a0001c0001t0001g0100 a0001c0001t0001g0284 others(7): Show |
10 | 35 | 0.2857 | 3 | c.202 others(18): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AIF1_chr6_31610234_31622015 | 31618538 | A | ATTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01069.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 8 | 326 | 0.0245 | 3 | c.*16 others(14): Show |
AIF1 | ENSG00000204472.13 | transcript | ENST00000376059.8 | protein_coding | 1524 | chr6 | TogoVar | |||||||
AIF1_chr6_31610234_31622015 | 31618889 | C | CAGG | downstream_gene_variant | MODIFIER | HG01074.hp2 HG02717.hp2 HG02738.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 3 | 436 | 0.0069 | 3 | c.*19 others(14): Show |
AIF1 | ENSG00000204472.13 | transcript | ENST00000376059.8 | protein_coding | 1875 | chr6 | TogoVar | |||||||
AIFM1_chrX_130124362_130170841 | 130135439 | T | TTAA | intron_variant | MODIFIER | HG01952.hp1 HG02027.hp1 HG02148.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0048 others(6): Show |
9 | 20 | 0.4500 | 3 | c.130 others(20): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 12/15 | chrX | TogoVar | |||||||
AIFM2_chr10_70107271_70137825 | 70125437 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00733.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0021a0001c0001t0041others(6): Show | a0001c0001t0001g0011 a0001c0001t0001g0035 a0001c0001t0001g0036 others(14): Show |
22 | 31 | 0.7097 | 3 | c.-13 others(20): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
AIFM2_chr10_70107271_70137825 | 70133775 | A | AAAT | upstream_gene_variant | MODIFIER | HG02056.hp1 HG02602.hp2 HG02818.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0014a0001c0001t0031others(6): Show | a0001c0001t0002g0015 a0001c0001t0014g0017 a0001c0001t0014g0047 others(9): Show |
13 | 423 | 0.0307 | 3 | c.-10 others(14): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 951 | chr10 | TogoVar | |||||||
AIFM3_chr22_20962255_20986358 | 20984615 | G | GGGC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(205): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(126): Show |
208 | 450 | 0.4622 | 3 | c.*35 others(14): Show |
AIFM3 | ENSG00000183773.16 | transcript | ENST00000440238.4 | protein_coding | 3258 | chr22 | TogoVar | |||||||
AIFM3_chr22_20962255_20986358 | 20984622 | G | GGGT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00558.hp1 others(49): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(43): Show |
52 | 144 | 0.3611 | 3 | c.*35 others(14): Show |
AIFM3 | ENSG00000183773.16 | transcript | ENST00000440238.4 | protein_coding | 3265 | chr22 | TogoVar | |||||||
AIG1_chr6_143055889_143346058 | 143071704 | G | GTTC | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02109.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0167 others(23): Show |
26 | 82 | 0.3171 | 3 | c.141 others(22): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143128404 | T | TTTG | intron_variant | MODIFIER | HG02486.hp2 HG02615.hp2 HG02896.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(3): Show | a0001c0001t0001g0178 a0001c0002t0001g0191 a0001c0002t0003g0158 others(8): Show |
11 | 202 | 0.0545 | 3 | c.142 others(20): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143143526 | A | ATAT | intron_variant | MODIFIER | HG00597.hp1 HG01074.hp2 HG01891.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0010a0001c0002t0002others(2): Show | a0001c0001t0006g0136 a0001c0001t0010g0201 a0001c0002t0002g0020 others(3): Show |
6 | 174 | 0.0345 | 3 | c.297 others(20): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | chr6 | TogoVar | |||||||
AIG1_chr6_143055889_143346058 | 143143528 | A | ATAT | intron_variant | MODIFIER | HG01884.hp1 HG02155.hp1 HG02886.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0006 | a0001c0002t0001g0019 a0001c0002t0003g0053 a0001c0002t0006g0023 |
3 | 68 | 0.0441 | 3 | c.297 others(20): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | chr6 | TogoVar | |||||||
AIG1_chr6_143055889_143346058 | 143181794 | A | AAAG | intron_variant | MODIFIER | HG03098.hp2 NA18943.hp1 NA18984.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(1): Show | a0001c0001t0001g0127 a0001c0001t0001g0156 a0001c0001t0007g0084 others(3): Show |
6 | 202 | 0.0297 | 3 | c.399 others(22): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143196396 | C | CACA | intron_variant | MODIFIER | NA20129.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0178 a0001c0001t0002g0122 |
2 | 202 | 0.0099 | 3 | c.399 others(22): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | chr6 | TogoVar | |||||||
AIG1_chr6_143055889_143346058 | 143220991 | A | ATTG | intron_variant | MODIFIER | HG00639.hp1 HG01496.hp2 HG01884.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0092 a0001c0001t0001g0174 a0001c0001t0001g0175 others(10): Show |
13 | 202 | 0.0644 | 3 | c.399 others(22): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143229781 | G | GAAC | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0077 a0001c0001t0001g0099 a0001c0001t0001g0119 others(35): Show |
38 | 202 | 0.1881 | 3 | c.400 others(22): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143229784 | C | CAAA | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00639.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0113 others(35): Show |
38 | 121 | 0.3141 | 3 | c.400 others(22): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143235094 | T | TAGG | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02622.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(3): Show | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(9): Show |
12 | 202 | 0.0594 | 3 | c.400 others(22): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143263275 | G | GTTT | intron_variant | MODIFIER | HG01884.hp2 HG01978.hp1 HG02965.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(6): Show |
9 | 66 | 0.1364 | 3 | c.400 others(22): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143266346 | C | CAAA | intron_variant | MODIFIER | HG00544.hp2 HG01081.hp1 HG01978.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0177 others(25): Show |
28 | 72 | 0.3889 | 3 | c.400 others(22): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |