regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADCY8_chr8_130775301_131045909 | 130846888 | TTTCCTTC others(5): Show |
T | intron_variant | MODIFIER | HG01169.hp1 NA20905.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0091a0001c0003t0001g0205 | 2 | 246 | 0.0081 | -12 | c.250 others(29): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 11/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130849886 | ATCCCTTG others(5): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01099.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0003a0001c0003t0003 | a0001c0002t0002g0052a0001c0002t0003g0054a0001c0002t0003g0082others(3): Show | 6 | 246 | 0.0244 | -12 | c.221 others(27): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 9/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130874310 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG03209.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0007 | a0001c0002t0004a0001c0003t0002a0001c0007t0004 | a0001c0002t0004g0138a0001c0003t0002g0098a0001c0003t0002g0144others(1): Show | 4 | 246 | 0.0163 | -12 | c.211 others(31): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 8/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130893657 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01243.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0005a0001c0004t0013 | a0001c0004t0003g0213a0001c0004t0005g0002a0001c0004t0013g0240 | 4 | 246 | 0.0163 | -12 | c.191 others(31): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130992382 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG02615.hp2 HG02622.hp1 others(5): Show |
a0001 | a0001c0003a0001c0007a0001c0011 | a0001c0003t0002a0001c0007t0003a0001c0007t0004others(1): Show | a0001c0003t0002g0108a0001c0003t0002g0113a0001c0007t0003g0229others(5): Show | 8 | 246 | 0.0325 | -12 | c.961 others(29): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 1/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 131019797 | TTCTCTCT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01243.hp1 HG03491.hp2 others(2): Show |
a0001 | a0001c0002a0001c0004a0001c0005others(1): Show | a0001c0002t0003a0001c0004t0003a0001c0005t0001others(1): Show | a0001c0002t0003g0033a0001c0004t0003g0213a0001c0005t0001g0034others(2): Show | 5 | 246 | 0.0203 | -12 | c.960 others(31): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 1/17 | chr8 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 3963097 | CATATATA others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18952.hp1 | a0002 | a0002c0005 | a0002c0005t0075 | a0002c0005t0075g0124 | 1 | 320 | 0.0031 | -12 | c.*26 others(23): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 11/11 | 2666 | chr16 | TogoVar | |||||
ADCY9_chr16_3957653_4121442 | 3969569 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(49): Show |
a0001a0002a0009others(1): Show | a0001c0002a0001c0003a0001c0006others(14): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0020others(32): Show | a0001c0002t0002g0167a0001c0002t0002g0180a0001c0002t0002g0269others(49): Show | 52 | 320 | 0.1625 | -12 | c.287 others(31): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 3969602 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0005 | a0005c0060 | a0005c0060t0044 | a0005c0060t0044g0003 | 1 | 320 | 0.0031 | -12 | c.287 others(31): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 3975293 | CTTAATCT others(5): Show |
C | intron_variant | MODIFIER | HG02258.hp2 NA20129.hp2 |
a0004 | a0004c0024 | a0004c0024t0090a0004c0024t0091 | a0004c0024t0090g0236a0004c0024t0091g0241 | 2 | 320 | 0.0063 | -12 | c.282 others(29): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 9/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 4071332 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(134): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(28): Show | a0001c0001t0008a0001c0001t0010a0001c0001t0011others(92): Show | a0001c0001t0008g0219a0001c0001t0008g0274a0001c0001t0010g0263others(134): Show | 137 | 320 | 0.4281 | -12 | c.169 others(33): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 4097453 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(95): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0006a0001c0001t0008a0001c0001t0010others(69): Show | a0001c0001t0006g0246a0001c0001t0008g0219a0001c0001t0008g0274others(95): Show | 98 | 320 | 0.3063 | -12 | c.169 others(33): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 4107550 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(61): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0008a0001c0001t0011a0001c0001t0122others(42): Show | a0001c0001t0008g0219a0001c0001t0008g0230a0001c0001t0011g0206others(61): Show | 64 | 320 | 0.2000 | -12 | c.169 others(31): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
ADCYAP1_chr18_899871_917172 | 909873 | AATATATA others(5): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02572.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0019a0001c0001t0074a0001c0001t0120others(6): Show | a0001c0001t0019g0089a0001c0001t0074g0163a0001c0001t0120g0190others(9): Show | 12 | 488 | 0.0246 | -12 | c.*26 others(21): Show |
ADCYAP1 | ENSG00000141433.13 | transcript | ENST00000450565.8 | protein_coding | 5/5 | 260 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
ADD1_chr4_2838844_2935062 | 2852138 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078a0001c0001t0002g0079 | 2 | 320 | 0.0063 | -12 | c.-21 others(29): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADD1_chr4_2838844_2935062 | 2916162 | ATATTATT others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00639.hp2 others(18): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0264a0001c0001t0001g0284a0001c0001t0001g0296others(18): Show | 21 | 320 | 0.0656 | -12 | c.194 others(31): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADD2_chr2_70651784_70773200 | 70659145 | TAAAAAAA others(5): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02895.hp2 | a0008 | a0008c0010 | a0008c0010t0054 | a0008c0010t0054g0082 | 1 | 302 | 0.0033 | -12 | c.*42 others(23): Show |
ADD2 | ENSG00000075340.23 | transcript | ENST00000264436.9 | protein_coding | 16/16 | 4268 | chr2 | TogoVar | |||||
ADD2_chr2_70651784_70773200 | 70669857 | GAGAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp2 HG01071.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0018a0001c0001t0036others(3): Show | a0001c0001t0007g0081a0001c0001t0007g0083a0001c0001t0007g0084others(12): Show | 16 | 302 | 0.0530 | -12 | c.187 others(31): Show |
ADD2 | ENSG00000075340.23 | transcript | ENST00000264436.9 | protein_coding | 15/15 | chr2 | TogoVar | ||||||
ADD2_chr2_70651784_70773200 | 70687593 | AAAACAAA others(5): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0009 | a0001c0009t0045 | a0001c0009t0045g0146 | 1 | 302 | 0.0033 | -12 | c.948 others(27): Show |
ADD2 | ENSG00000075340.23 | transcript | ENST00000264436.9 | protein_coding | 9/15 | chr2 | TogoVar | ||||||
ADD3_chr10_110002984_110140565 | 110040954 | GTCTCTCT others(5): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008 | a0001c0001t0005g0092a0001c0001t0008g0126 | 2 | 288 | 0.0069 | -12 | c.-30 others(31): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADD3_chr10_110002984_110140565 | 110062200 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 288 | 0.0035 | -12 | c.-29 others(31): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADD3_chr10_110002984_110140565 | 110063737 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02922.hp1 HG03540.hp2 others(2): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0054a0001c0001t0003g0277a0001c0001t0005g0093others(2): Show | 5 | 288 | 0.0174 | -12 | c.-29 others(31): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADD3_chr10_110002984_110140565 | 110079427 | TGAGAGAG others(5): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0208 | 1 | 288 | 0.0035 | -12 | c.-29 others(31): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADD3_chr10_110002984_110140565 | 110079461 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG03139.hp1 others(2): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0005a0008c0011t0005 | a0001c0001t0005g0093a0001c0001t0005g0094a0001c0001t0005g0095others(2): Show | 5 | 288 | 0.0174 | -12 | c.-29 others(31): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADD3_chr10_110002984_110140565 | 110118019 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG01069.hp1 others(37): Show |
a0001a0008a0010 | a0001c0001a0008c0011a0010c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0006a0001c0001t0001g0018a0001c0001t0001g0019others(37): Show | 40 | 288 | 0.1389 | -12 | c.568 others(27): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADD3_chr10_110002984_110140565 | 110140022 | ACTCGTTC others(5): Show |
A | downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 288 | 0.0035 | -12 | c.*64 others(23): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 4458 | chr10 | TogoVar | ||||||
ADGB_chr6_146593972_146820462 | 146600926 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG02895.hp2 others(2): Show |
a0007a0008a0011others(2): Show | a0007c0017a0008c0016a0011c0056others(2): Show | a0007c0017t0001a0008c0016t0002a0011c0056t0001others(2): Show | a0007c0017t0001g0020a0008c0016t0002g0024a0011c0056t0001g0022others(2): Show | 5 | 276 | 0.0181 | -12 | c.74+ others(27): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGB_chr6_146593972_146820462 | 146614219 | CCCTTCCT others(5): Show |
C | intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0073 | 1 | 276 | 0.0036 | -12 | c.74+ others(29): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGB_chr6_146593972_146820462 | 146738438 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0008 | a0008c0080 | a0008c0080t0008 | a0008c0080t0008g0017 | 1 | 276 | 0.0036 | -12 | c.288 others(31): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 23/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGB_chr6_146593972_146820462 | 146781171 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG01106.hp2 HG04184.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0045a0002c0003t0001g0070a0002c0003t0001g0177 | 3 | 276 | 0.0109 | -12 | c.386 others(29): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 29/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133092747 | GAGGGAGG others(5): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0045 | a0001c0001t0002g0213a0001c0001t0045g0206 | 2 | 368 | 0.0054 | -12 | c.3+3 others(25): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133124829 | CCCCCGGC others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(124): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0025a0001c0002t0001a0001c0002t0006others(20): Show | a0001c0001t0025g0047a0001c0001t0025g0048a0001c0002t0001g0003others(121): Show | 127 | 368 | 0.3451 | -12 | c.402 others(29): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133128642 | TTCGGGGC others(5): Show |
T | disruptive_inframe_deletion | MODERATE | NA19009.hp2 | a0010 | a0010c0026 | a0010c0026t0023 | a0010c0026t0023g0109 | 1 | 368 | 0.0027 | -12 | c.815 others(19): Show |
p.Phe others(19): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 7/7 | 1232/4264 | 815/1683 | 272/560 | chr10 | TogoVar | ||
ADGRA1_chr10_133082924_133136675 | 133130786 | ATGCACAC others(5): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0348 | 1 | 368 | 0.0027 | -12 | c.*12 others(23): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 7/7 | 1280 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
ADGRA2_chr8_37791883_37849896 | 37796226 | AACACACA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 370 | 0.0027 | -12 | c.-10 others(23): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 656 | chr8 | TogoVar | ||||||
ADGRA2_chr8_37791883_37849896 | 37804100 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 370 | 0.0027 | -12 | c.266 others(29): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADGRA2_chr8_37791883_37849896 | 37806514 | TTTTTTCT others(5): Show |
T | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 370 | 0.0027 | -12 | c.267 others(29): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADGRA2_chr8_37791883_37849896 | 37816593 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00673.hp1 | a0004 | a0004c0015 | a0004c0015t0001 | a0004c0015t0001g0014 | 1 | 370 | 0.0027 | -12 | c.338 others(29): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADGRA2_chr8_37791883_37849896 | 37816927 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG02922.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0291a0001c0002t0001g0353a0001c0002t0001g0354others(1): Show | 4 | 370 | 0.0108 | -12 | c.338 others(29): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADGRA2_chr8_37791883_37849896 | 37822384 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0361 | 1 | 370 | 0.0027 | -12 | c.339 others(29): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADGRA2_chr8_37791883_37849896 | 37836038 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01071.hp1 others(28): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(9): Show | a0001c0001t0001g0018a0001c0001t0001g0037a0001c0001t0001g0056others(28): Show | 31 | 370 | 0.0838 | -12 | c.205 others(29): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADGRA2_chr8_37791883_37849896 | 37847928 | TTTATTAT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 370 | 0.0027 | -12 | c.*55 others(23): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 3033 | chr8 | TogoVar | ||||||
ADGRA3_chr4_22382376_22521066 | 22390336 | ATAAAATA others(5): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG03041.hp2 HG03540.hp1 others(1): Show |
a0001a0013 | a0001c0002a0013c0032 | a0001c0002t0001a0013c0032t0001 | a0001c0002t0001g0095a0001c0002t0001g0199a0001c0002t0001g0203others(1): Show | 4 | 290 | 0.0138 | -12 | c.262 others(31): Show |
ADGRA3 | ENSG00000152990.14 | transcript | ENST00000334304.10 | protein_coding | 17/18 | chr4 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142453042 | CCGCTCGC others(5): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02615.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0003c0009t0002 | a0001c0001t0001g0294a0003c0009t0002g0001a0003c0009t0002g0295others(1): Show | 5 | 310 | 0.0161 | -12 | c.-22 others(31): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADGRB1_chr8_142444649_142550007 | 142548069 | GTGGTGAT others(5): Show |
G | downstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 310 | 0.0032 | -12 | c.*36 others(23): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 3063 | chr8 | TogoVar | ||||||
ADGRB2_chr1_31722117_31769340 | 31723167 | AAGGGTAA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG02083.hp1 others(4): Show |
a0004 | a0004c0008 | a0004c0008t0003 | a0004c0008t0003g0045a0004c0008t0003g0210a0004c0008t0003g0211others(3): Show | 7 | 280 | 0.0250 | -12 | c.*42 others(23): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 3949 | chr1 | TogoVar | ||||||
ADGRB2_chr1_31722117_31769340 | 31726071 | GTCTCCGA others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02572.hp1 HG02895.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038a0001c0002t0001g0078 | 3 | 280 | 0.0107 | -12 | c.*13 others(23): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 1045 | chr1 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 68661461 | GTGTGTAT others(5): Show |
G | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0032 | 1 | 120 | 0.0083 | -12 | c.757 others(31): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRB3_chr6_68630282_69394506 | 68661526 | TATATGTG others(5): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035a0001c0001t0002g0036a0001c0001t0002g0038others(2): Show | 5 | 120 | 0.0417 | -12 | c.757 others(31): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRB3_chr6_68630282_69394506 | 68661538 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01167.hp1 HG01256.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(4): Show | a0001c0001t0001g0007a0001c0001t0002g0100a0001c0001t0002g0101others(12): Show | 15 | 120 | 0.1250 | -12 | c.757 others(31): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |