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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADCY1_chr7_45569368_45728116 | 45708350 | G | A | missense_variant others(1): Show |
MODERATE | HG00642.hp1 HG01175.hp2 HG01257.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0032 a0002c0003t0007g0033 a0002c0003t0007g0034 others(2): Show |
5 | 276 | 0.0181 | 0 | c.281 others(4): Show |
p.Ala others(6): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 18/20 | 2994/12657 | 2818/3360 | 940/1119 | chr7 | TogoVar | |||
ADCY2_chr5_7391138_7835081 | 7743756 | G | A | splice_region_variant others(1): Show |
LOW | HG01192.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0062 | 1 | 138 | 0.0072 | 0 | c.195 others(6): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 15/24 | chr5 | TogoVar | |||||||
ADCY2_chr5_7391138_7835081 | 7757568 | G | GATGGCCG others(25): Show |
splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00597.hp2 HG00639.hp1 others(77): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0005a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0034 others(77): Show |
80 | 137 | 0.5839 | 32 | c.209 others(45): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7757568 | G | GATGGCCG others(25): Show |
frameshift_variant others(1): Show |
HIGH | HG02451.hp2 | a0005 | a0005c0023 | a0005c0023t0001 | a0005c0023t0001g0054 | 1 | 58 | 0.0172 | 32 | c.209 others(41): Show |
p.Met others(5): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 16/25 | 2251/6645 | 2092/3276 | 698/1091 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
ADCY2_chr5_7391138_7835081 | 7757592 | T | C | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00597.hp2 HG00639.hp1 others(83): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0005a0001c0006others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0034 others(83): Show |
86 | 138 | 0.6232 | 0 | c.209 others(6): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 16/24 | chr5 | TogoVar | |||||||
ADCY2_chr5_7391138_7835081 | 7804699 | C | T | splice_region_variant others(1): Show |
LOW | HG02572.hp2 HG02717.hp2 HG02922.hp2 |
a0001a0002a0006 | a0001c0026a0002c0012a0006c0020 | a0001c0026t0004a0002c0012t0001a0006c0020t0001 | a0001c0026t0004g0002 a0002c0012t0001g0037 a0006c0020t0001g0017 |
3 | 138 | 0.0217 | 0 | c.288 others(6): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 22/24 | chr5 | TogoVar | |||||||
ADCY3_chr2_24814169_24925237 | 24824539 | A | G | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(131): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0004a0001c0006others(16): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0011others(25): Show | a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0036 others(128): Show |
134 | 270 | 0.4963 | 0 | c.257 others(6): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
ADCY3_chr2_24814169_24925237 | 24827538 | G | A | splice_region_variant others(1): Show |
LOW | HG02486.hp1 NA20300.hp1 |
a0001 | a0001c0004a0001c0028 | a0001c0004t0016a0001c0028t0020 | a0001c0004t0016g0007 a0001c0028t0020g0250 |
2 | 270 | 0.0074 | 0 | c.249 others(6): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 15/21 | chr2 | TogoVar | |||||||
ADCY3_chr2_24814169_24925237 | 24838446 | G | A | missense_variant others(1): Show |
MODERATE | NA20752.hp2 | a0007 | a0007c0022 | a0007c0022t0019 | a0007c0022t0019g0228 | 1 | 270 | 0.0037 | 0 | c.153 others(4): Show |
p.Ser others(6): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 8/22 | 2284/4950 | 1532/3435 | 511/1144 | chr2 | TogoVar | |||
ADCY4_chr14_24313359_24340071 | 24318572 | C | A | splice_region_variant others(1): Show |
LOW | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 436 | 0.0023 | 0 | c.308 others(6): Show |
ADCY4 | ENSG00000129467.14 | transcript | ENST00000418030.7 | protein_coding | 24/24 | chr14 | TogoVar | |||||||
ADCY4_chr14_24313359_24340071 | 24319220 | T | C | splice_region_variant others(1): Show |
LOW | HG02055.hp2 HG02257.hp1 HG02258.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0004 | a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0002g0063 others(6): Show |
10 | 436 | 0.0229 | 0 | c.284 others(6): Show |
ADCY4 | ENSG00000129467.14 | transcript | ENST00000418030.7 | protein_coding | 22/24 | chr14 | TogoVar | |||||||
ADCY4_chr14_24313359_24340071 | 24319325 | G | A | splice_region_variant others(1): Show |
LOW | NA18952.hp1 NA18962.hp2 NA18998.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0050 a0001c0001t0001g0239 a0001c0001t0008g0060 |
4 | 436 | 0.0092 | 0 | c.284 others(6): Show |
ADCY4 | ENSG00000129467.14 | transcript | ENST00000418030.7 | protein_coding | 22/24 | chr14 | TogoVar | |||||||
ADCY4_chr14_24313359_24340071 | 24324304 | C | T | splice_region_variant others(1): Show |
LOW | HG02055.hp2 HG02258.hp1 HG02922.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0058 a0001c0003t0004g0296 a0001c0003t0004g0297 others(3): Show |
7 | 436 | 0.0161 | 0 | c.190 others(6): Show |
ADCY4 | ENSG00000129467.14 | transcript | ENST00000418030.7 | protein_coding | 15/24 | chr14 | TogoVar | |||||||
ADCY4_chr14_24313359_24340071 | 24324394 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(410): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0018 others(291): Show |
413 | 436 | 0.9472 | 0 | c.182 others(6): Show |
ADCY4 | ENSG00000129467.14 | transcript | ENST00000418030.7 | protein_coding | 14/24 | chr14 | TogoVar | |||||||
ADCY4_chr14_24313359_24340071 | 24326075 | G | T | splice_region_variant others(1): Show |
LOW | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 436 | 0.0023 | 0 | c.165 others(6): Show |
ADCY4 | ENSG00000129467.14 | transcript | ENST00000418030.7 | protein_coding | 12/24 | chr14 | TogoVar | |||||||
ADCY5_chr3_123277296_123454090 | 123300116 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(201): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 others(201): Show |
204 | 258 | 0.7907 | 0 | c.290 others(6): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 15/20 | chr3 | TogoVar | |||||||
ADCY6_chr12_48761194_48794089 | 48777234 | G | A | splice_region_variant others(1): Show |
LOW | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 302 | 0.0033 | 0 | c.124 others(6): Show |
ADCY6 | ENSG00000174233.12 | transcript | ENST00000357869.8 | protein_coding | 5/21 | chr12 | TogoVar | |||||||
ADCY7_chr16_50261551_50323135 | 50287908 | G | A | splice_region_variant others(1): Show |
LOW | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 336 | 0.0030 | 0 | c.-26 others(6): Show |
ADCY7 | ENSG00000121281.13 | transcript | ENST00000673801.1 | protein_coding | 1/25 | chr16 | TogoVar | |||||||
ADCY7_chr16_50261551_50323135 | 50300716 | C | T | stop_gained others(1): Show |
HIGH | NA19065.hp1 | a0012 | a0012c0027 | a0012c0027t0005 | a0012c0027t0005g0090 | 1 | 336 | 0.0030 | 0 | c.107 others(4): Show |
p.Gln others(4): Show |
ADCY7 | ENSG00000121281.13 | transcript | ENST00000673801.1 | protein_coding | 9/26 | 1476/6271 | 1078/3243 | 360/1080 | chr16 | TogoVar | |||
ADCY7_chr16_50261551_50323135 | 50307155 | G | T | splice_region_variant others(1): Show |
LOW | HG02622.hp2 HG02809.hp2 |
a0001 | a0001c0004a0001c0014 | a0001c0004t0013a0001c0014t0013 | a0001c0004t0013g0153 a0001c0014t0013g0302 |
2 | 336 | 0.0060 | 0 | c.185 others(6): Show |
ADCY7 | ENSG00000121281.13 | transcript | ENST00000673801.1 | protein_coding | 15/25 | chr16 | TogoVar | |||||||
ADCY7_chr16_50261551_50323135 | 50308321 | C | G | splice_region_variant others(1): Show |
LOW | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 336 | 0.0030 | 0 | c.185 others(6): Show |
ADCY7 | ENSG00000121281.13 | transcript | ENST00000673801.1 | protein_coding | 15/25 | chr16 | TogoVar | |||||||
ADCY7_chr16_50261551_50323135 | 50309543 | T | C | splice_region_variant others(1): Show |
LOW | HG03098.hp2 HG03486.hp2 |
a0001a0009 | a0001c0006a0009c0016 | a0001c0006t0002a0009c0016t0002 | a0001c0006t0002g0294 a0009c0016t0002g0137 |
2 | 336 | 0.0060 | 0 | c.206 others(6): Show |
ADCY7 | ENSG00000121281.13 | transcript | ENST00000673801.1 | protein_coding | 17/25 | chr16 | TogoVar | |||||||
ADCY8_chr8_130775301_131045909 | 130780883 | G | T | splice_region_variant others(1): Show |
LOW | HG04115.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0071 | 1 | 244 | 0.0041 | 0 | c.326 others(6): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 17/17 | chr8 | TogoVar | |||||||
ADCY8_chr8_130775301_131045909 | 130814066 | C | T | splice_region_variant others(1): Show |
LOW | HG02055.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002a0001c0003t0006 | a0001c0003t0001g0123 a0001c0003t0002g0166 a0001c0003t0006g0006 others(1): Show |
4 | 244 | 0.0164 | 0 | c.291 others(6): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 14/17 | chr8 | TogoVar | |||||||
ADCY8_chr8_130775301_131045909 | 130867840 | A | G | splice_region_variant others(1): Show |
LOW | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0123 | 1 | 244 | 0.0041 | 0 | c.221 others(6): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 9/17 | chr8 | TogoVar | |||||||
ADCY8_chr8_130775301_131045909 | 130909710 | A | G | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(121): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0027 a0001c0001t0001g0041 a0001c0001t0001g0056 others(119): Show |
124 | 244 | 0.5082 | 0 | c.163 others(4): Show |
p.Pro others(6): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 6/18 | 2214/4421 | 1638/3756 | 546/1251 | chr8 | TogoVar | |||
ADCYAP1R1_chr7_31047308_31116474 | 31052676 | C | T | splice_region_variant | LOW | HG02280.hp2 | a0002 | a0002c0009 | a0002c0009t0064 | a0002c0009t0064g0187 | 1 | 320 | 0.0031 | 0 | c.-74 others(3): Show |
ADCYAP1R1 | ENSG00000078549.16 | transcript | ENST00000304166.9 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
ADD1_chr4_2838844_2935062 | 2914881 | C | T | splice_region_variant others(1): Show |
LOW | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 318 | 0.0031 | 0 | c.179 others(6): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 13/15 | chr4 | TogoVar | |||||||
ADD2_chr2_70651784_70773200 | 70695723 | G | A | splice_region_variant others(1): Show |
LOW | HG03239.hp2 | a0001 | a0001c0012 | a0001c0012t0005 | a0001c0012t0005g0020 | 1 | 300 | 0.0033 | 0 | c.553 others(3): Show |
p.Leu others(6): Show |
ADD2 | ENSG00000075340.23 | transcript | ENST00000264436.9 | protein_coding | 6/16 | 1021/9290 | 553/2181 | 185/726 | chr2 | TogoVar | |||
ADD3_chr10_110002984_110140565 | 110100851 | G | A | splice_region_variant others(1): Show |
LOW | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0112 | 1 | 286 | 0.0035 | 0 | c.195 others(5): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 2/14 | chr10 | TogoVar | |||||||
ADD3_chr10_110002984_110140565 | 110117344 | A | G | splice_region_variant others(1): Show |
LOW | HG02486.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0208 | 1 | 286 | 0.0035 | 0 | c.489 others(3): Show |
p.Val others(6): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 5/15 | 834/4413 | 489/2121 | 163/706 | chr10 | TogoVar | |||
ADD3_chr10_110002984_110140565 | 110135564 | T | C | splice_region_variant | LOW | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0063 | 1 | 286 | 0.0035 | 0 | c.*19 others(5): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 15/15 | chr10 | TogoVar | |||||||
ADGB_chr6_146593972_146820462 | 146676449 | C | T | splice_region_variant others(1): Show |
LOW | HG01517.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0002 | 1 | 274 | 0.0036 | 0 | c.121 others(6): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 9/35 | chr6 | TogoVar | |||||||
ADGB_chr6_146593972_146820462 | 146692818 | T | C | splice_region_variant others(1): Show |
LOW | HG01516.hp1 HG01517.hp1 HG02615.hp1 others(4): Show |
a0007a0008a0009others(2): Show | a0007c0074a0008c0016a0009c0023others(2): Show | a0007c0074t0001a0008c0016t0003a0009c0023t0001others(2): Show | a0007c0074t0001g0026 a0008c0016t0003g0001 a0008c0016t0003g0224 others(3): Show |
7 | 274 | 0.0255 | 0 | c.148 others(6): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 11/35 | chr6 | TogoVar | |||||||
ADGB_chr6_146593972_146820462 | 146692923 | T | C | splice_region_variant others(1): Show |
LOW | HG00609.hp2 | a0008 | a0008c0067 | a0008c0067t0002 | a0008c0067t0002g0032 | 1 | 274 | 0.0036 | 0 | c.157 others(6): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 12/35 | chr6 | TogoVar | |||||||
ADGB_chr6_146593972_146820462 | 146726205 | T | C | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00609.hp1 HG00621.hp1 others(51): Show |
a0001a0002a0003others(13): Show | a0001c0004a0001c0015a0001c0064others(18): Show | a0001c0004t0002a0001c0015t0002a0001c0015t0006others(19): Show | a0001c0004t0002g0002 a0001c0004t0002g0034 a0001c0004t0002g0041 others(51): Show |
54 | 274 | 0.1971 | 0 | c.235 others(6): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 19/35 | chr6 | TogoVar | |||||||
ADGB_chr6_146593972_146820462 | 146740601 | T | G | splice_region_variant others(1): Show |
LOW | HG02523.hp2 NA18947.hp1 NA18948.hp1 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0003a0002c0035others(2): Show | a0001c0002t0002a0002c0003t0001a0002c0035t0001others(2): Show | a0001c0002t0002g0025 a0001c0002t0002g0028 a0001c0002t0002g0035 others(6): Show |
9 | 274 | 0.0328 | 0 | c.302 others(6): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 24/35 | chr6 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133127227 | C | T | splice_region_variant others(1): Show |
LOW | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0280 | 1 | 366 | 0.0027 | 0 | c.402 others(5): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
ADGRA2_chr8_37791883_37849896 | 37831417 | C | T | splice_region_variant others(1): Show |
LOW | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 368 | 0.0027 | 0 | c.933 others(5): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 7/18 | chr8 | TogoVar | |||||||
ADGRA2_chr8_37791883_37849896 | 37833961 | C | T | splice_region_variant others(1): Show |
LOW | NA19087.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0067 | 1 | 368 | 0.0027 | 0 | c.144 others(6): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 10/18 | chr8 | TogoVar | |||||||
ADGRA2_chr8_37791883_37849896 | 37834133 | T | C | splice_region_variant others(1): Show |
LOW | HG03540.hp2 HG03579.hp2 |
a0001a0005 | a0001c0003a0005c0044 | a0001c0003t0001a0005c0044t0001 | a0001c0003t0001g0199 a0005c0044t0001g0159 |
2 | 368 | 0.0054 | 0 | c.160 others(6): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 11/18 | chr8 | TogoVar | |||||||
ADGRA2_chr8_37791883_37849896 | 37835166 | G | A | splice_region_variant others(1): Show |
LOW | HG02559.hp2 NA21309.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0082 a0001c0003t0001g0325 |
2 | 368 | 0.0054 | 0 | c.160 others(6): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 11/18 | chr8 | TogoVar | |||||||
ADGRA2_chr8_37791883_37849896 | 37835405 | G | A | splice_region_variant others(1): Show |
LOW | NA18943.hp1 | a0019 | a0019c0026 | a0019c0026t0016 | a0019c0026t0016g0022 | 1 | 368 | 0.0027 | 0 | c.183 others(6): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 12/18 | chr8 | TogoVar | |||||||
ADGRA2_chr8_37791883_37849896 | 37838949 | T | C | splice_region_variant others(1): Show |
LOW | HG00642.hp1 HG00673.hp2 HG00735.hp1 others(33): Show |
a0001a0004a0011 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0020 a0001c0001t0001g0079 a0001c0001t0001g0288 others(33): Show |
36 | 368 | 0.0978 | 0 | c.226 others(6): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 14/18 | chr8 | TogoVar | |||||||
ADGRB1_chr8_142444649_142550007 | 142484770 | C | T | splice_region_variant others(1): Show |
LOW | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 308 | 0.0032 | 0 | c.230 others(6): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 13/30 | chr8 | TogoVar | |||||||
ADGRB1_chr8_142444649_142550007 | 142521957 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(153): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(149): Show |
156 | 308 | 0.5065 | 0 | c.302 others(6): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 20/30 | chr8 | TogoVar | |||||||
ADGRB2_chr1_31722117_31769340 | 31735574 | C | G | splice_region_variant others(1): Show |
LOW | HG01069.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0133 | 1 | 278 | 0.0036 | 0 | c.335 others(6): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 24/32 | chr1 | TogoVar | |||||||
ADGRB2_chr1_31722117_31769340 | 31735582 | G | A | splice_region_variant others(1): Show |
LOW | NA19004.hp1 NA19009.hp1 NA19011.hp1 |
a0001 | a0001c0013a0001c0023 | a0001c0013t0001a0001c0023t0002 | a0001c0013t0001g0144 a0001c0013t0001g0145 a0001c0023t0002g0060 |
3 | 278 | 0.0108 | 0 | c.335 others(4): Show |
p.Ala others(7): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 24/33 | 3998/5708 | 3351/4758 | 1117/1585 | chr1 | TogoVar | |||
ADGRB3_chr6_68630282_69394506 | 69048180 | A | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG01192.hp2 HG01256.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0002g0068 others(11): Show |
14 | 118 | 0.1186 | 0 | c.210 others(6): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 13/31 | chr6 | TogoVar | |||||||
ADGRB3_chr6_68630282_69394506 | 69235033 | T | C | missense_variant others(1): Show |
MODERATE | HG03225.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0092 | 1 | 118 | 0.0085 | 0 | c.260 others(4): Show |
p.Ile others(6): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 19/32 | 3515/6090 | 2609/4569 | 870/1522 | chr6 | TogoVar |