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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
APOLD1_chr12_12780659_12796466 | 12786902 | C | A | splice_region_variant others(1): Show |
LOW | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 426 | 0.0023 | 0 | c.4-7 others(3): Show |
APOLD1 | ENSG00000178878.13 | transcript | ENST00000356591.5 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
APOM_chr6_31650894_31663210 | 31657730 | G | T | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00597.hp1 HG00621.hp2 others(72): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(5): Show |
75 | 418 | 0.1794 | 0 | c.541 others(5): Show |
APOM | ENSG00000204444.11 | transcript | ENST00000375916.4 | protein_coding | 5/5 | chr6 | TogoVar | |||||||
APOM_chr6_31650894_31663210 | 31658209 | C | T | splice_region_variant | LOW | HG03209.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 418 | 0.0048 | 0 | c.*12 others(4): Show |
APOM | ENSG00000204444.11 | transcript | ENST00000375916.4 | protein_coding | 6/6 | chr6 | TogoVar | |||||||
APOOL_chrX_84998877_85098315 | 85051374 | A | AT | splice_region_variant others(1): Show |
LOW | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0014others(7): Show | a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 others(25): Show |
28 | 254 | 0.1102 | 1 | c.121 others(6): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
APOOL_chrX_84998877_85098315 | 85055932 | T | C | splice_region_variant others(1): Show |
LOW | HG02109.hp1 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0039 | a0001c0001t0038g0022 a0001c0001t0039g0023 |
2 | 254 | 0.0079 | 0 | c.394 others(5): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 5/8 | chrX | TogoVar | |||||||
APPL1_chr3_57222729_57278471 | 57238122 | C | T | splice_region_variant others(1): Show |
LOW | HG01167.hp2 HG01169.hp2 HG01891.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0031 others(13): Show |
22 | 264 | 0.0833 | 0 | c.285 others(5): Show |
APPL1 | ENSG00000157500.12 | transcript | ENST00000288266.8 | protein_coding | 4/21 | chr3 | TogoVar | |||||||
APPL1_chr3_57222729_57278471 | 57246227 | A | G | splice_region_variant others(1): Show |
LOW | HG01167.hp2 HG01169.hp2 HG01891.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006 | a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0031 others(17): Show |
28 | 264 | 0.1061 | 0 | c.621 others(5): Show |
APPL1 | ENSG00000157500.12 | transcript | ENST00000288266.8 | protein_coding | 8/21 | chr3 | TogoVar | |||||||
APPL2_chr12_105168300_105241174 | 105195505 | T | C | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG02027.hp2 HG02071.hp2 others(14): Show |
a0001a0010 | a0001c0004a0010c0015 | a0001c0004t0006a0010c0015t0006 | a0001c0004t0006g0005 a0001c0004t0006g0100 a0001c0004t0006g0102 others(12): Show |
17 | 390 | 0.0436 | 0 | c.109 others(6): Show |
APPL2 | ENSG00000136044.12 | transcript | ENST00000258530.8 | protein_coding | 12/20 | chr12 | TogoVar | |||||||
APRT_chr16_88804339_88816928 | 88811552 | G | A | missense_variant others(1): Show |
MODERATE | HG03195.hp1 | a0004 | a0004c0008 | a0004c0008t0004 | a0004c0008t0004g0064 | 1 | 436 | 0.0023 | 0 | c.185 others(3): Show |
p.Ala others(5): Show |
APRT | ENSG00000198931.11 | transcript | ENST00000378364.8 | protein_coding | 2/5 | 214/931 | 185/543 | 62/180 | chr16 | TogoVar | |||
APTX_chr9_32967616_33006628 | 32986032 | TAAAAAAA others(17): Show |
T | splice_region_variant others(1): Show |
LOW | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 381 | 0.0026 | -24 | c.484 others(36): Show |
APTX | ENSG00000137074.20 | transcript | ENST00000379817.7 | protein_coding | 4/7 | chr9 | TogoVar | |||||||
APTX_chr9_32967616_33006628 | 32986033 | AAAAAAAA others(15): Show |
A | splice_region_variant others(1): Show |
LOW | HG01074.hp1 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 a0001c0001t0001g0177 |
2 | 386 | 0.0052 | -22 | c.484 others(34): Show |
APTX | ENSG00000137074.20 | transcript | ENST00000379817.7 | protein_coding | 4/7 | chr9 | TogoVar | |||||||
APTX_chr9_32967616_33006628 | 32986034 | AAAAAAAA others(14): Show |
A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(92): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(57): Show |
95 | 386 | 0.2461 | -21 | c.484 others(33): Show |
APTX | ENSG00000137074.20 | transcript | ENST00000379817.7 | protein_coding | 4/7 | chr9 | TogoVar | |||||||
APTX_chr9_32967616_33006628 | 32986035 | AAAAAAAA others(13): Show |
A | splice_region_variant others(1): Show |
LOW | HG00544.hp1 HG02165.hp1 NA18612.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0140 a0001c0001t0001g0145 others(4): Show |
8 | 386 | 0.0207 | -20 | c.484 others(32): Show |
APTX | ENSG00000137074.20 | transcript | ENST00000379817.7 | protein_coding | 4/7 | chr9 | TogoVar | |||||||
AQP10_chr1_154316093_154330325 | 154323118 | T | C | splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG01891.hp1 HG02257.hp2 others(6): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0004 | 9 | 392 | 0.0230 | 0 | c.369 others(3): Show |
p.His others(6): Show |
AQP10 | ENSG00000143595.13 | transcript | ENST00000324978.8 | protein_coding | 3/6 | 432/1814 | 369/906 | 123/301 | chr1 | TogoVar | |||
AQP12A_chr2_240686866_240703483 | 240692042 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(50): Show |
a0002a0005a0010others(4): Show | a0002c0002a0002c0007a0005c0004others(5): Show | a0002c0002t0002a0002c0007t0002a0005c0004t0002others(5): Show | a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0008 others(21): Show |
53 | 170 | 0.3118 | 0 | c.123 others(5): Show |
AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
AQP12A_chr2_240686866_240703483 | 240692066 | G | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(50): Show |
a0002a0005a0010others(4): Show | a0002c0002a0002c0007a0005c0004others(5): Show | a0002c0002t0002a0002c0007t0002a0005c0004t0002others(5): Show | a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0008 others(21): Show |
53 | 170 | 0.3118 | 0 | c.124 others(5): Show |
AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
AQP12A_chr2_240686866_240703483 | 240692519 | C | T | missense_variant others(1): Show |
MODERATE | HG00323.hp2 HG02280.hp1 HG02451.hp1 others(9): Show |
a0006 | a0006c0005a0006c0013 | a0006c0005t0001a0006c0013t0001 | a0006c0005t0001g0006 a0006c0005t0001g0012 a0006c0005t0001g0023 others(3): Show |
12 | 170 | 0.0706 | 0 | c.569 others(3): Show |
p.Thr others(6): Show |
AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/4 | 617/1063 | 569/888 | 190/295 | chr2 | TogoVar | |||
AQP12A_chr2_240686866_240703483 | 240694556 | G | T | splice_region_variant others(1): Show |
LOW | HG03516.hp1 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0065 | 1 | 170 | 0.0059 | 0 | c.688 others(5): Show |
AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
AQP2_chr12_49945737_49963878 | 49951193 | G | A | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(115): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(11): Show | a0001c0001t0003g0029 a0001c0001t0004g0021 a0001c0001t0011g0015 others(15): Show |
118 | 440 | 0.2682 | 0 | c.360 others(5): Show |
AQP2 | ENSG00000167580.8 | transcript | ENST00000199280.4 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
AQP3_chr9_33436160_33452593 | 33442976 | G | C | splice_region_variant others(1): Show |
LOW | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0090 | 1 | 460 | 0.0022 | 0 | c.374 others(5): Show |
AQP3 | ENSG00000165272.16 | transcript | ENST00000297991.6 | protein_coding | 3/5 | chr9 | TogoVar | |||||||
AQP7B_chr2_94582311_94609628 | 94604251 | TCAGCCCC others(55): Show |
T | frameshift_variant others(3): Show |
HIGH | HG00438.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0169 | 1 | 382 | 0.0026 | -62 | c.756 others(72): Show |
p.Asp others(5): Show |
AQP7B | ENSG00000259916.2 | transcript | ENST00000561882.2 | protein_coding | 8/8 | 756/1041 | 252/346 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||
AQP7_chr9_33378191_33407568 | 33386069 | C | G | splice_region_variant others(1): Show |
LOW | HG02615.hp1 HG02896.hp1 HG02897.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0051 others(3): Show |
8 | 436 | 0.0183 | 0 | c.525 others(5): Show |
AQP7 | ENSG00000165269.13 | transcript | ENST00000297988.6 | protein_coding | 6/7 | chr9 | TogoVar | |||||||
AQP7_chr9_33378191_33407568 | 33386397 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(429): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(347): Show |
432 | 436 | 0.9908 | 0 | c.406 others(5): Show |
AQP7 | ENSG00000165269.13 | transcript | ENST00000297988.6 | protein_coding | 5/7 | chr9 | TogoVar | |||||||
AQP7_chr9_33378191_33407568 | 33386398 | A | G | splice_region_variant others(1): Show |
LOW | HG04204.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0262 | 1 | 436 | 0.0023 | 0 | c.406 others(5): Show |
AQP7 | ENSG00000165269.13 | transcript | ENST00000297988.6 | protein_coding | 5/7 | chr9 | TogoVar | |||||||
AQP7_chr9_33378191_33407568 | 33395198 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(432): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(349): Show |
435 | 436 | 0.9977 | 0 | c.27- others(4): Show |
AQP7 | ENSG00000165269.13 | transcript | ENST00000297988.6 | protein_coding | 2/7 | chr9 | TogoVar | |||||||
AQP8_chr16_25211947_25233932 | 25217193 | G | A | splice_region_variant others(1): Show |
LOW | NA18964.hp2 NA18970.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 |
3 | 418 | 0.0072 | 0 | c.13- others(4): Show |
AQP8 | ENSG00000103375.11 | transcript | ENST00000219660.6 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34857112 | T | TA | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG01891.hp2 HG02027.hp1 others(23): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0008others(2): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0011others(13): Show | a0001c0001t0002g0203 a0001c0001t0010g0070 a0001c0001t0010g0261 others(23): Show |
26 | 303 | 0.0858 | 1 | c.414 others(7): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 34/34 | chr15 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34857112 | TA | T | splice_region_variant others(1): Show |
LOW | HG00741.hp1 HG01884.hp2 HG02145.hp2 others(4): Show |
a0002 | a0002c0003a0002c0009a0002c0013 | a0002c0003t0032a0002c0009t0013a0002c0013t0033others(1): Show | a0002c0003t0032g0040 a0002c0009t0013g0274 a0002c0009t0013g0275 others(4): Show |
7 | 284 | 0.0246 | -1 | c.414 others(7): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 34/34 | chr15 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34896970 | C | T | splice_region_variant others(1): Show |
LOW | HG02257.hp1 HG03209.hp1 HG03540.hp2 |
a0001 | a0001c0008 | a0001c0008t0018a0001c0008t0043 | a0001c0008t0018g0177 a0001c0008t0018g0178 a0001c0008t0043g0176 |
3 | 310 | 0.0097 | 0 | c.239 others(6): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 21/34 | chr15 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34900868 | C | G | splice_region_variant others(1): Show |
LOW | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 1 | 310 | 0.0032 | 0 | c.200 others(6): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 19/34 | chr15 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34938733 | A | ATAGT | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(207): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 others(206): Show |
210 | 310 | 0.6774 | 4 | c.718 others(15): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 9/34 | chr15 | TogoVar | |||||||
ARAF_chrX_47556205_47576908 | 47566919 | C | A | splice_region_variant others(1): Show |
LOW | HG02257.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 | 2 | 316 | 0.0063 | 0 | c.727 others(5): Show |
ARAF | ENSG00000078061.14 | transcript | ENST00000377045.9 | protein_coding | 8/15 | chrX | TogoVar | |||||||
ARAF_chrX_47556205_47576908 | 47566981 | T | C | splice_region_variant others(1): Show |
LOW | HG02145.hp1 HG02976.hp2 HG03453.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0027 a0001c0001t0001g0056 a0001c0001t0001g0067 others(2): Show |
6 | 316 | 0.0190 | 0 | c.728 others(5): Show |
ARAF | ENSG00000078061.14 | transcript | ENST00000377045.9 | protein_coding | 8/15 | chrX | TogoVar | |||||||
ARAP1_chr11_72680069_72757408 | 72688450 | C | A | splice_region_variant others(1): Show |
LOW | NA19010.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0122 | 1 | 352 | 0.0028 | 0 | c.407 others(6): Show |
ARAP1 | ENSG00000186635.16 | transcript | ENST00000393609.8 | protein_coding | 31/34 | chr11 | TogoVar | |||||||
ARAP1_chr11_72680069_72757408 | 72695718 | A | G | splice_region_variant others(1): Show |
LOW | NA20300.hp1 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0278 | 1 | 352 | 0.0028 | 0 | c.342 others(4): Show |
p.Ser others(7): Show |
ARAP1 | ENSG00000186635.16 | transcript | ENST00000393609.8 | protein_coding | 24/35 | 3628/5156 | 3420/4353 | 1140/1450 | chr11 | TogoVar | |||
ARAP1_chr11_72680069_72757408 | 72698114 | A | G | splice_region_variant others(1): Show |
LOW | HG00733.hp1 HG01071.hp2 HG01884.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0093 a0001c0001t0001g0094 others(15): Show |
19 | 352 | 0.0540 | 0 | c.254 others(6): Show |
ARAP1 | ENSG00000186635.16 | transcript | ENST00000393609.8 | protein_coding | 18/34 | chr11 | TogoVar | |||||||
ARAP1_chr11_72680069_72757408 | 72711013 | C | T | splice_region_variant others(1): Show |
LOW | NA19030.hp1 | a0019 | a0019c0021 | a0019c0021t0001 | a0019c0021t0001g0268 | 1 | 352 | 0.0028 | 0 | c.121 others(6): Show |
ARAP1 | ENSG00000186635.16 | transcript | ENST00000393609.8 | protein_coding | 9/34 | chr11 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36117141 | A | G | splice_region_variant others(1): Show |
LOW | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0172 | 1 | 276 | 0.0036 | 0 | c.396 others(6): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 24/32 | chr4 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36244174 | C | T | splice_region_variant others(1): Show |
LOW | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 276 | 0.0036 | 0 | c.-16 others(6): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 1/32 | chr4 | TogoVar | |||||||
ARAP3_chr5_141648402_141687230 | 141655864 | C | T | splice_region_variant others(1): Show |
LOW | HG02451.hp1 HG02896.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0269 a0001c0006t0001g0271 |
2 | 414 | 0.0048 | 0 | c.397 others(6): Show |
ARAP3 | ENSG00000120318.16 | transcript | ENST00000239440.9 | protein_coding | 30/32 | chr5 | TogoVar | |||||||
ARAP3_chr5_141648402_141687230 | 141658466 | AGGGTTGG others(9): Show |
A | frameshift_variant others(3): Show |
HIGH | NA18965.hp2 | a0020 | a0020c0032 | a0020c0032t0001 | a0020c0032t0001g0124 | 1 | 414 | 0.0024 | -16 | c.341 others(27): Show |
p.Val others(6): Show |
ARAP3 | ENSG00000120318.16 | transcript | ENST00000239440.9 | protein_coding | 25/33 | 3499/5258 | 3412/4635 | 1138/1544 | chr5 | TogoVar | |||
ARAP3_chr5_141648402_141687230 | 141659474 | G | A | splice_region_variant others(1): Show |
LOW | HG03471.hp2 | a0001 | a0001c0043 | a0001c0043t0001 | a0001c0043t0001g0237 | 1 | 414 | 0.0024 | 0 | c.327 others(4): Show |
p.Ile others(7): Show |
ARAP3 | ENSG00000120318.16 | transcript | ENST00000239440.9 | protein_coding | 23/33 | 3345/5258 | 3270/4635 | 1090/1544 | chr5 | TogoVar | |||
ARAP3_chr5_141648402_141687230 | 141680507 | G | T | splice_region_variant others(1): Show |
LOW | HG01175.hp1 | a0001 | a0001c0044 | a0001c0044t0001 | a0001c0044t0001g0102 | 1 | 414 | 0.0024 | 0 | c.-17 others(5): Show |
ARAP3 | ENSG00000120318.16 | transcript | ENST00000239440.9 | protein_coding | 1/32 | chr5 | TogoVar | |||||||
ARCN1_chr11_118567409_118608033 | 118572558 | C | T | splice_region_variant others(1): Show |
LOW | HG04199.hp2 | a0002 | a0002c0005 | a0002c0005t0014 | a0002c0005t0014g0305 | 1 | 366 | 0.0027 | 0 | c.3+8 others(3): Show |
ARCN1 | ENSG00000095139.15 | transcript | ENST00000264028.5 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ARCN1_chr11_118567409_118608033 | 118583173 | G | A | splice_region_variant others(1): Show |
LOW | HG03098.hp1 NA18963.hp1 NA18994.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0270 a0001c0002t0002g0014 a0001c0002t0002g0054 others(4): Show |
8 | 366 | 0.0219 | 0 | c.268 others(5): Show |
ARCN1 | ENSG00000095139.15 | transcript | ENST00000264028.5 | protein_coding | 2/9 | chr11 | TogoVar | |||||||
ARC_chr8_142606049_142619479 | 142612102 | C | T | splice_region_variant others(1): Show |
LOW | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 418 | 0.0024 | 0 | c.*74 others(6): Show |
ARC | ENSG00000198576.4 | transcript | ENST00000356613.4 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
AREG_chr4_74440136_74460005 | 74452536 | C | T | splice_region_variant others(1): Show |
LOW | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 426 | 0.0023 | 0 | c.666 others(5): Show |
AREG | ENSG00000109321.11 | transcript | ENST00000395748.8 | protein_coding | 4/5 | chr4 | TogoVar | |||||||
ARF3_chr12_48930723_48962487 | 48940113 | G | GA | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(103): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(3): Show | a0001c0001t0002g0001 a0001c0001t0002g0021 a0001c0001t0002g0022 others(28): Show |
106 | 345 | 0.3072 | 1 | c.149 others(6): Show |
ARF3 | ENSG00000134287.10 | transcript | ENST00000256682.9 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
ARF4_chr3_57566363_57602344 | 57577393 | GA | G | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00544.hp2 HG00621.hp2 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 others(47): Show |
84 | 356 | 0.2360 | -1 | c.259 others(6): Show |
ARF4 | ENSG00000168374.11 | transcript | ENST00000303436.11 | protein_coding | 3/5 | chr3 | TogoVar | |||||||
ARF5_chr7_127583411_127596700 | 127589479 | C | T | splice_region_variant others(1): Show |
LOW | NA18976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 400 | 0.0025 | 0 | c.149 others(5): Show |
ARF5 | ENSG00000004059.11 | transcript | ENST00000000233.10 | protein_coding | 2/5 | chr7 | TogoVar |