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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADCY1_chr7_45569368_45728116 | 45641932 | C | CAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG03516.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0042a0001c0001t0077 | a0001c0001t0042g0029a0001c0001t0077g0012 | 2 | 278 | 0.0072 | 36 | c.102 others(55): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADCY1_chr7_45569368_45728116 | 45711943 | A | ATATATTT others(29): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0053 | 1 | 278 | 0.0036 | 36 | c.305 others(55): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADCY2_chr5_7391138_7835081 | 7557201 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG03098.hp2 NA18950.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0079a0002c0002t0002g0056 | 2 | 140 | 0.0143 | 36 | c.570 others(55): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 3/24 | chr5 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7804040 | A | AAGAGAGA others(29): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02895.hp2 |
a0002a0006 | a0002c0002a0002c0004a0006c0023 | a0002c0002t0001a0002c0004t0001a0006c0023t0001 | a0002c0002t0001g0083a0002c0004t0001g0027a0006c0023t0001g0054 | 3 | 140 | 0.0214 | 36 | c.277 others(53): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY4_chr14_24313359_24340071 | 24321386 | A | ATGCACTC others(29): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18966.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0060a0001c0002t0001g0226 | 2 | 438 | 0.0046 | 36 | c.258 others(53): Show |
ADCY4 | ENSG00000129467.14 | transcript | ENST00000418030.7 | protein_coding | 20/24 | chr14 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123348036 | A | AGTGTGTG others(29): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG01109.hp2 others(12): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0158a0001c0001t0001g0223a0001c0001t0002g0032others(12): Show | 15 | 260 | 0.0577 | 36 | c.128 others(53): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 2/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123359331 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG01081.hp2 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167a0001c0001t0001g0174 | 2 | 260 | 0.0077 | 36 | c.113 others(55): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123396819 | C | CGAGAGAG others(29): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0025 | a0001c0025t0001 | a0001c0025t0001g0251 | 1 | 260 | 0.0039 | 36 | c.113 others(57): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130846849 | C | CCTTCCCT others(29): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01255.hp1 HG01257.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0027a0001c0001t0002g0051a0001c0001t0002g0059others(9): Show | 12 | 246 | 0.0488 | 36 | c.250 others(53): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 11/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130926940 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0006a0001c0003t0006g0007 | 2 | 246 | 0.0081 | 36 | c.148 others(57): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 5/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130984086 | C | CAGCAGCC others(29): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02109.hp1 HG02647.hp1 |
a0001 | a0001c0003a0001c0009 | a0001c0003t0002a0001c0003t0009a0001c0009t0010 | a0001c0003t0002g0020a0001c0003t0009g0005a0001c0009t0010g0008 | 3 | 246 | 0.0122 | 36 | c.111 others(55): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 2/17 | chr8 | TogoVar | ||||||
ADD1_chr4_2838844_2935062 | 2852207 | C | CCTTTCTT others(29): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03471.hp1 |
a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0312a0003c0003t0006g0314 | 2 | 320 | 0.0063 | 36 | c.-21 others(53): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADD1_chr4_2838844_2935062 | 2852207 | C | CCTTTCTT others(29): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0203 | 1 | 320 | 0.0031 | 36 | c.-21 others(53): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADGB_chr6_146593972_146820462 | 146614219 | C | CCCTCCCT others(29): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0117 | 1 | 276 | 0.0036 | 36 | c.74+ others(53): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGB_chr6_146593972_146820462 | 146691449 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0009 | a0009c0066 | a0009c0066t0001 | a0009c0066t0001g0127 | 1 | 276 | 0.0036 | 36 | c.148 others(53): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 11/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133099118 | A | AGGAGAAA others(29): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(255): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(70): Show | a0001c0001t0002g0053a0001c0001t0002g0063a0001c0001t0002g0065others(242): Show | 258 | 368 | 0.7011 | 36 | c.255 others(51): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133099146 | G | GCCCCTCC others(29): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0216 | 1 | 368 | 0.0027 | 36 | c.255 others(51): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133099197 | A | AGTGCTGG others(29): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0317 | 1 | 368 | 0.0027 | 36 | c.255 others(51): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRB1_chr8_142444649_142550007 | 142469353 | C | CTATGTGC others(29): Show |
intron_variant | MODIFIER | HG03041.hp2 NA19240.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0003 | a0001c0004t0001g0249a0001c0004t0003g0250 | 2 | 310 | 0.0065 | 36 | c.784 others(53): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADGRB2_chr1_31722117_31769340 | 31728803 | A | AACACACA others(29): Show |
intron_variant | MODIFIER | HG02056.hp1 HG03098.hp2 NA19004.hp1 |
a0001 | a0001c0004a0001c0013a0001c0028 | a0001c0004t0001a0001c0013t0001a0001c0028t0001 | a0001c0004t0001g0072a0001c0013t0001g0143a0001c0028t0001g0073 | 3 | 280 | 0.0107 | 36 | c.438 others(53): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 29/32 | chr1 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 69030956 | T | TTTTCTTT others(29): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02809.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0001g0085others(1): Show | 4 | 120 | 0.0333 | 36 | c.210 others(57): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRB3_chr6_68630282_69394506 | 69031519 | C | CTCTTTCT others(29): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02109.hp2 HG02602.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0028a0001c0001t0001g0059a0001c0001t0001g0074others(10): Show | 13 | 120 | 0.1083 | 36 | c.210 others(57): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRB3_chr6_68630282_69394506 | 69043321 | A | AAAGAAAG others(29): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02615.hp2 HG02809.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0047a0001c0001t0001g0059a0001c0001t0001g0073others(5): Show | 8 | 120 | 0.0667 | 36 | c.210 others(55): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRB3_chr6_68630282_69394506 | 69274475 | T | TCCTTCCT others(29): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 120 | 0.0083 | 36 | c.281 others(57): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRD1_chr12_130948907_131146469 | 131032792 | G | GAGGTGAC others(29): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02486.hp1 NA20129.hp1 |
a0001a0003a0006 | a0001c0005a0003c0012a0006c0037 | a0001c0005t0008a0003c0012t0017a0006c0037t0042 | a0001c0005t0008g0226a0003c0012t0017g0017a0006c0037t0042g0046 | 3 | 242 | 0.0124 | 36 | c.147 others(57): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ADGRD1_chr12_130948907_131146469 | 131098134 | G | GCGGTGGC others(29): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0020 | a0001c0020t0002 | a0001c0020t0002g0180 | 1 | 242 | 0.0041 | 36 | c.167 others(55): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ADGRD1_chr12_130948907_131146469 | 131098169 | C | CACGGTGG others(29): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0082 | 1 | 242 | 0.0041 | 36 | c.167 others(55): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 15/24 | chr12 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14736671 | T | TATATTTA others(29): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02922.hp1 HG03516.hp2 others(1): Show |
a0001a0009 | a0001c0017a0009c0018 | a0001c0017t0001a0001c0017t0003a0009c0018t0001others(1): Show | a0001c0017t0001g0141a0001c0017t0003g0071a0009c0018t0001g0213others(1): Show | 4 | 218 | 0.0184 | 36 | c.246 others(53): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 20/20 | chr19 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14749755 | T | TTATAGCT others(29): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0004 | a0004c0004 | a0004c0004t0016 | a0004c0004t0016g0123 | 1 | 218 | 0.0046 | 36 | c.202 others(55): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 16/20 | chr19 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14749796 | T | TTATAGCT others(29): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG02572.hp1 others(5): Show |
a0004 | a0004c0004 | a0004c0004t0007a0004c0004t0016a0004c0004t0020others(2): Show | a0004c0004t0007g0006a0004c0004t0007g0047a0004c0004t0007g0054others(5): Show | 8 | 218 | 0.0367 | 36 | c.202 others(55): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 16/20 | chr19 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14759503 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0007 | a0007c0008 | a0007c0008t0037 | a0007c0008t0037g0110 | 1 | 218 | 0.0046 | 36 | c.108 others(55): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ADGRE3_chr19_14614117_14679844 | 14617337 | C | CCTTTCTT others(29): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 NA18949.hp1 |
a0001a0011 | a0001c0001a0011c0011 | a0001c0001t0001a0011c0011t0001 | a0001c0001t0001g0111a0011c0011t0001g0065 | 2 | 372 | 0.0054 | 36 | c.*20 others(47): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 1779 | chr19 | TogoVar | ||||||
ADGRE3_chr19_14614117_14679844 | 14636145 | T | TCTTCCTT others(29): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0183 | 1 | 372 | 0.0027 | 36 | c.148 others(55): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 11/15 | chr19 | TogoVar | ||||||
ADGRE3_chr19_14614117_14679844 | 14636149 | T | TCTTCCTT others(29): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01168.hp2 HG01169.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0005a0003c0002others(2): Show | a0001c0001t0001a0002c0005t0001a0003c0002t0001others(2): Show | a0001c0001t0001g0058a0002c0005t0001g0188a0002c0005t0001g0196others(6): Show | 9 | 372 | 0.0242 | 36 | c.148 others(55): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 11/15 | chr19 | TogoVar | ||||||
ADGRE3_chr19_14614117_14679844 | 14636149 | T | TCTTTCTT others(29): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02886.hp2 HG03471.hp2 |
a0002a0004a0015 | a0002c0005a0004c0004a0015c0029 | a0002c0005t0001a0004c0004t0001a0015c0029t0001 | a0002c0005t0001g0185a0004c0004t0001g0316a0015c0029t0001g0017 | 3 | 372 | 0.0081 | 36 | c.148 others(55): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 11/15 | chr19 | TogoVar | ||||||
ADGRE3_chr19_14614117_14679844 | 14636149 | T | TCTTTCTT others(29): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154a0001c0001t0001g0317 | 2 | 372 | 0.0054 | 36 | c.148 others(55): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 11/15 | chr19 | TogoVar | ||||||
ADGRG3_chr16_57663306_57694378 | 57683004 | T | TCCAGTTC others(29): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 448 | 0.0022 | 36 | c.882 others(51): Show |
ADGRG3 | ENSG00000182885.17 | transcript | ENST00000333493.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ADGRG6_chr6_142297007_142451261 | 142318338 | A | ATTATATA others(29): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0173 | 1 | 260 | 0.0039 | 36 | c.103 others(53): Show |
ADGRG6 | ENSG00000112414.15 | transcript | ENST00000367609.8 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRG7_chr3_100604601_100700479 | 100604865 | G | GTGTATAT others(29): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(150): Show |
a0001a0003a0012 | a0001c0001a0003c0003a0012c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(144): Show | 153 | 340 | 0.4500 | 36 | c.-49 others(47): Show |
ADGRG7 | ENSG00000144820.8 | transcript | ENST00000273352.8 | protein_coding | 4735 | chr3 | TogoVar | ||||||
ADGRL1_chr19_14142743_14211169 | 14183193 | C | CAGAGAGA others(29): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0002 | a0002c0005 | a0002c0005t0009 | a0002c0005t0009g0136 | 1 | 222 | 0.0045 | 36 | c.70+ others(49): Show |
ADGRL1 | ENSG00000072071.17 | transcript | ENST00000361434.8 | protein_coding | 2/22 | chr19 | TogoVar | ||||||
ADGRL3_chr4_61195326_62083335 | 61857686 | C | CCTTTCTT others(29): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0022a0001c0006t0010 | a0001c0001t0022g0017a0001c0006t0010g0024 | 2 | 58 | 0.0345 | 36 | c.148 others(57): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADGRL3_chr4_61195326_62083335 | 61916541 | T | TTAAACAG others(29): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0033 | 1 | 58 | 0.0172 | 36 | c.211 others(55): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 13/26 | chr4 | TogoVar | ||||||
ADGRV1_chr5_90553797_91169437 | 90721576 | T | TAAAATAA others(29): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG02965.hp2 others(3): Show |
a0019a0028a0046others(2): Show | a0019c0015a0028c0045a0046c0067others(2): Show | a0019c0015t0001a0028c0045t0001a0046c0067t0001others(2): Show | a0019c0015t0001g0006a0019c0015t0001g0010a0028c0045t0001g0005others(3): Show | 6 | 158 | 0.0380 | 36 | c.974 others(53): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 45/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADGRV1_chr5_90553797_91169437 | 91035861 | T | TAAAATAT others(29): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18963.hp1 |
a0001a0004 | a0001c0081a0004c0005 | a0001c0081t0001a0004c0005t0001 | a0001c0081t0001g0104a0004c0005t0001g0087 | 2 | 158 | 0.0127 | 36 | c.181 others(59): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 85/89 | chr5 | TogoVar | ||||||
ADGRV1_chr5_90553797_91169437 | 91035861 | T | TATAATAT others(29): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0048 | a0048c0062 | a0048c0062t0001 | a0048c0062t0001g0037 | 1 | 158 | 0.0063 | 36 | c.181 others(59): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 85/89 | chr5 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74188346 | T | TTAATGTA others(29): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 200 | 0.0050 | 36 | c.66- others(53): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74274732 | G | GTATATAT others(29): Show |
intron_variant | MODIFIER | HG00280.hp2 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0075a0001c0001t0003g0056 | 2 | 200 | 0.0100 | 36 | c.195 others(55): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74274732 | G | GTGTATAT others(29): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 200 | 0.0050 | 36 | c.195 others(55): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74480206 | T | TTTTCTTT others(29): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 200 | 0.0050 | 36 | c.556 others(55): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADPRHL1_chr13_113394611_113458488 | 113412948 | T | TACCCCGC others(29): Show |
intron_variant | MODIFIER | HG03669.hp2 NA18999.hp1 NA20905.hp2 |
a0013a0014 | a0013c0016a0014c0048 | a0013c0016t0014a0014c0048t0037 | a0013c0016t0014g0100a0013c0016t0014g0101a0014c0048t0037g0127 | 3 | 262 | 0.0115 | 36 | c.106 others(55): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar |