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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADARB2_chr10_1172313_1742525 | 1493729 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG02040.hp2 HG02630.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0011a0001c0001t0012others(1): Show | a0001c0001t0003g0097 a0001c0001t0011g0017 a0001c0001t0012g0009 others(1): Show |
4 | 6 | 0.6667 | -13 | c.101 others(34): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1566063 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG01884.hp1 HG02145.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(7): Show | a0001c0001t0001g0045 a0001c0001t0003g0097 a0001c0001t0009g0055 others(7): Show |
10 | 51 | 0.1961 | -13 | c.100 others(34): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1717527 | TCTTTCCT others(6): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02083.hp1 HG02897.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0009a0001c0003t0040others(4): Show | a0001c0001t0001g0069 a0001c0003t0009g0046 a0001c0003t0040g0073 others(4): Show |
7 | 106 | 0.0660 | -13 | c.100 others(32): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75596712 | TAAAAAAA others(6): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 NA18961.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0018 | a0002c0002t0001g0015 a0002c0002t0001g0138 a0002c0002t0001g0185 others(2): Show |
5 | 54 | 0.0926 | -13 | c.*34 others(24): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 155 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75618098 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0004 | a0004c0005 | a0004c0005t0012 | a0004c0005t0012g0104 | 1 | 229 | 0.0044 | -13 | c.293 others(28): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 4/9 | chr16 | TogoVar | |||||||
ADAT3_chr19_1900399_1918447 | 1903548 | GTTTTTTT others(6): Show |
G | upstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 81 | 0.0123 | -13 | c.-20 others(24): Show |
ADAT3 | ENSG00000213638.6 | transcript | ENST00000329478.4 | protein_coding | 1850 | chr19 | TogoVar | |||||||
ADCK1_chr14_77795109_77940014 | 77827350 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03041.hp1 HG03471.hp2 HG03516.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002a0001c0003t0012 | a0001c0001t0002g0165 a0001c0003t0002g0168 a0001c0003t0012g0199 |
3 | 196 | 0.0153 | -13 | c.219 others(30): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77842450 | TCCTTCCT others(6): Show |
T | intron_variant | MODIFIER | HG04184.hp2 NA18967.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0046 a0001c0001t0005g0060 |
2 | 143 | 0.0140 | -13 | c.220 others(32): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77894736 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG03041.hp1 HG03516.hp1 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0012 | a0001c0003t0002g0168 a0001c0003t0012g0199 |
2 | 65 | 0.0308 | -13 | c.583 others(30): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144370087 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 32 | 0.0313 | -13 | c.-40 others(24): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 3959 | chr8 | TogoVar | |||||||
ADCK5_chr8_144369047_144398242 | 144375229 | TGGCCAGT others(6): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0040 | 1 | 344 | 0.0029 | -13 | c.12+ others(28): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCY10_chr1_167804386_167919134 | 167846810 | AATATCGG others(6): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(100): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0003a0001c0005others(19): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(24): Show | a0001c0002t0001g0153 a0001c0003t0001g0025 a0001c0003t0001g0053 others(100): Show |
103 | 324 | 0.3179 | -13 | c.243 others(30): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 19/32 | chr1 | TogoVar | |||||||
ADCY2_chr5_7391138_7835081 | 7418647 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0083 | 1 | 64 | 0.0156 | -13 | c.408 others(30): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7498239 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG03041.hp1 HG03209.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0006a0002c0003t0005a0002c0004t0001others(1): Show | a0001c0001t0006g0051 a0002c0003t0005g0040 a0002c0004t0001g0041 others(1): Show |
4 | 82 | 0.0488 | -13 | c.409 others(32): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7522739 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0007 | a0007c0017 | a0007c0017t0004 | a0007c0017t0004g0024 | 1 | 14 | 0.0714 | -13 | c.570 others(30): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7699081 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02280.hp2 HG02922.hp2 others(6): Show |
a0001a0002a0006 | a0001c0001a0001c0013a0001c0025others(3): Show | a0001c0001t0006a0001c0013t0002a0001c0025t0004others(4): Show | a0001c0001t0006g0051 a0001c0013t0002g0082 a0001c0025t0004g0110 others(6): Show |
9 | 23 | 0.3913 | -13 | c.110 others(30): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7792217 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0117 | 1 | 29 | 0.0345 | -13 | c.262 others(32): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7817823 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0007t0006 | a0001c0001t0003g0008 a0001c0007t0006g0021 a0001c0007t0006g0089 others(1): Show |
4 | 17 | 0.2353 | -13 | c.299 others(30): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADCY3_chr2_24814169_24925237 | 24831984 | TGGGGGCA others(6): Show |
T | intron_variant | MODIFIER | HG03453.hp1 HG03579.hp1 |
a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0254 a0001c0010t0003g0262 |
2 | 270 | 0.0074 | -13 | c.196 others(30): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 11/21 | chr2 | TogoVar | |||||||
ADCY3_chr2_24814169_24925237 | 24862179 | GGTCTGGG others(6): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01168.hp2 others(12): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0001 | a0001c0006t0003a0001c0008t0003a0002c0001t0001 | a0001c0006t0003g0238 a0001c0006t0003g0239 a0001c0006t0003g0244 others(11): Show |
15 | 270 | 0.0556 | -13 | c.825 others(32): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 3/21 | chr2 | TogoVar | |||||||
ADCY7_chr16_50261551_50323135 | 50308154 | GCCCTGTG others(6): Show |
G | intron_variant | MODIFIER | HG00609.hp2 NA18977.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 a0001c0001t0002g0175 a0001c0001t0002g0191 |
3 | 336 | 0.0089 | -13 | c.185 others(30): Show |
ADCY7 | ENSG00000121281.13 | transcript | ENST00000673801.1 | protein_coding | 15/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130787744 | GTTGTTTT others(6): Show |
G | intron_variant | MODIFIER | NA18522.hp1 NA21309.hp2 |
a0001 | a0001c0015a0001c0016 | a0001c0015t0003a0001c0016t0003 | a0001c0015t0003g0130 a0001c0016t0003g0076 |
2 | 244 | 0.0082 | -13 | c.306 others(32): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 15/17 | chr8 | TogoVar | |||||||
ADCY8_chr8_130775301_131045909 | 130807983 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 28 | 0.0357 | -13 | c.291 others(32): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 14/17 | chr8 | TogoVar | |||||||
ADCY8_chr8_130775301_131045909 | 130846885 | CCCTTTCC others(6): Show |
C | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0098 | 1 | 218 | 0.0046 | -13 | c.250 others(30): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 11/17 | chr8 | TogoVar | |||||||
ADCY9_chr16_3957653_4121442 | 3969568 | AAATATAT others(6): Show |
A | intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0010 | a0001c0010t0071 | a0001c0010t0071g0132 | 1 | 316 | 0.0032 | -13 | c.287 others(32): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
ADCY9_chr16_3957653_4121442 | 3969600 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0252 | 1 | 316 | 0.0032 | -13 | c.287 others(32): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
ADCY9_chr16_3957653_4121442 | 4097543 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01884.hp1 HG02145.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0021a0001c0001t0062a0001c0001t0104others(6): Show | a0001c0001t0021g0024 a0001c0001t0062g0032 a0001c0001t0104g0233 others(6): Show |
9 | 318 | 0.0283 | -13 | c.169 others(34): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
ADCY9_chr16_3957653_4121442 | 4097545 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02818.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0002a0001c0016a0001c0041 | a0001c0002t0030a0001c0002t0113a0001c0002t0118others(2): Show | a0001c0002t0030g0026 a0001c0002t0113g0308 a0001c0002t0118g0307 others(2): Show |
5 | 317 | 0.0158 | -13 | c.169 others(34): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
ADD2_chr2_70651784_70773200 | 70756429 | TTGAGACA others(6): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG01081.hp2 others(19): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0004g0011 others(19): Show |
22 | 300 | 0.0733 | -13 | c.-15 others(34): Show |
ADD2 | ENSG00000075340.23 | transcript | ENST00000264436.9 | protein_coding | 1/15 | chr2 | TogoVar | |||||||
ADD3_chr10_110002984_110140565 | 110022120 | ACTCAGGG others(6): Show |
A | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0004 | 1 | 286 | 0.0035 | -13 | c.-30 others(32): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADD3_chr10_110002984_110140565 | 110096309 | CCAGTCTC others(6): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01123.hp1 others(45): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0012a0001c0013others(4): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0003g0001 a0001c0001t0003g0103 a0001c0001t0003g0104 others(44): Show |
48 | 286 | 0.1678 | -13 | c.-29 others(30): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGB_chr6_146593972_146820462 | 146650597 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG03540.hp1 NA18979.hp1 |
a0001a0004 | a0001c0002a0004c0020 | a0001c0002t0002a0004c0020t0003 | a0001c0002t0002g0254 a0004c0020t0003g0216 a0004c0020t0003g0217 |
3 | 60 | 0.0500 | -13 | c.331 others(30): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 3/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGB_chr6_146593972_146820462 | 146710258 | ACTTTTAT others(6): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00621.hp1 others(80): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0004others(32): Show | a0001c0001t0002a0001c0002t0002a0001c0004t0002others(33): Show | a0001c0001t0002g0027 a0001c0001t0002g0044 a0001c0001t0002g0052 others(80): Show |
83 | 274 | 0.3029 | -13 | c.170 others(32): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 13/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGB_chr6_146593972_146820462 | 146738438 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0009 | a0009c0079 | a0009c0079t0009 | a0009c0079t0009g0018 | 1 | 74 | 0.0135 | -13 | c.288 others(32): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 23/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133092826 | AGAGAGGG others(6): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02723.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0034 | a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0034g0059 |
3 | 357 | 0.0084 | -13 | c.3+3 others(26): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA2_chr8_37791883_37849896 | 37806501 | CTTTTTCT others(6): Show |
C | intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 365 | 0.0027 | -13 | c.267 others(30): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRA2_chr8_37791883_37849896 | 37830047 | GGGACCCT others(6): Show |
G | intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 368 | 0.0027 | -13 | c.718 others(26): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 6/18 | chr8 | TogoVar | |||||||
ADGRA2_chr8_37791883_37849896 | 37836084 | CACACACA others(6): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02809.hp2 HG02895.hp1 others(1): Show |
a0001a0005 | a0001c0002a0001c0004a0005c0014 | a0001c0002t0002a0001c0004t0020a0005c0014t0002 | a0001c0002t0002g0008 a0001c0002t0002g0236 a0001c0004t0020g0153 others(1): Show |
4 | 368 | 0.0109 | -13 | c.205 others(30): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 13/18 | chr8 | TogoVar | |||||||
ADGRA2_chr8_37791883_37849896 | 37836085 | ACACACAC others(6): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0305 |
2 | 368 | 0.0054 | -13 | c.205 others(30): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRA3_chr4_22382376_22521066 | 22507923 | TAATAAAC others(6): Show |
T | intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 288 | 0.0035 | -13 | c.257 others(30): Show |
ADGRA3 | ENSG00000152990.14 | transcript | ENST00000334304.10 | protein_coding | 1/18 | chr4 | TogoVar | |||||||
ADGRA3_chr4_22382376_22521066 | 22510009 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0024 | 1 | 94 | 0.0106 | -13 | c.257 others(30): Show |
ADGRA3 | ENSG00000152990.14 | transcript | ENST00000334304.10 | protein_coding | 1/18 | chr4 | TogoVar | |||||||
ADGRB1_chr8_142444649_142550007 | 142475496 | GTGGGGCG others(6): Show |
G | frameshift_variant | HIGH | HG02735.hp1 | a0008 | a0008c0022 | a0008c0022t0002 | a0008c0022t0002g0269 | 1 | 308 | 0.0032 | -13 | c.808 others(20): Show |
p.Trp others(5): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 3/31 | 1483/6020 | 808/4755 | 270/1584 | chr8 | TogoVar | |||
ADGRB2_chr1_31722117_31769340 | 31749936 | AGAAAGAA others(6): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02055.hp1 HG02922.hp2 others(1): Show |
a0001a0006 | a0001c0012a0006c0014 | a0001c0012t0005a0006c0014t0005 | a0001c0012t0005g0043 a0006c0014t0005g0044 |
4 | 278 | 0.0144 | -13 | c.839 others(30): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 4/32 | chr1 | TogoVar | |||||||
ADGRB3_chr6_68630282_69394506 | 68772887 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 1 | 115 | 0.0087 | -13 | c.757 others(34): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 68772889 | AAAAAAAT others(6): Show |
A | intron_variant | MODIFIER | HG02559.hp1 NA18747.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0099 a0001c0003t0002g0120 |
2 | 108 | 0.0185 | -13 | c.757 others(34): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 68772891 | AAAAATAT others(6): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0109 | 1 | 113 | 0.0088 | -13 | c.757 others(34): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 68840369 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02895.hp2 HG02970.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0072 a0001c0001t0002g0093 a0001c0002t0001g0024 |
3 | 9 | 0.3333 | -13 | c.758 others(32): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 68897851 | GAAAACAA others(6): Show |
G | intron_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0118 | 1 | 118 | 0.0085 | -13 | c.758 others(32): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 68971143 | TCTGTGGA others(6): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0105 | 1 | 118 | 0.0085 | -13 | c.152 others(32): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 8/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 69031028 | TCTTCTCT others(6): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01192.hp1 HG01256.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0002t0001g0022 others(6): Show |
9 | 118 | 0.0763 | -13 | c.210 others(34): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 13/31 | chr6 | TogoVar |