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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADK_chr10_74146221_74714290 | 74674886 | A | AAATT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp2 others(121): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(121): Show |
124 | 198 | 0.6263 | 4 | c.964 others(21): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74677965 | C | CAAAA | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp2 HG02056.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0045 others(7): Show |
10 | 34 | 0.2941 | 4 | c.964 others(21): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74682576 | T | TTTTC | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG00738.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(37): Show |
40 | 198 | 0.2020 | 4 | c.964 others(23): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74694147 | A | ATTTT | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00621.hp1 others(64): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0025 others(64): Show |
67 | 68 | 0.9853 | 4 | c.965 others(23): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74702524 | T | TTTCC | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG00741.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0067 others(46): Show |
49 | 94 | 0.5213 | 4 | c.965 others(21): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADM5_chr19_49684594_49695575 | 49694087 | A | AAAAT | downstream_gene_variant | MODIFIER | HG02071.hp2 HG02165.hp1 HG03490.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0001 |
13 | 254 | 0.0512 | 4 | c.*35 others(15): Show |
ADM5 | ENSG00000224420.4 | transcript | ENST00000420022.4 | protein_coding | 3513 | chr19 | TogoVar | |||||||
ADNP2_chr18_80104262_80145346 | 80127339 | G | GTTTT | intron_variant | MODIFIER | HG01243.hp2 HG01978.hp1 HG02145.hp1 others(18): Show |
a0001 | a0001c0001a0001c0004a0001c0009 | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(2): Show | a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0042 others(12): Show |
21 | 124 | 0.1694 | 4 | c.109 others(21): Show |
ADNP2 | ENSG00000101544.9 | transcript | ENST00000262198.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ADNP2_chr18_80104262_80145346 | 80134386 | A | AGTGT | intron_variant | MODIFIER | HG00408.hp2 HG01346.hp2 HG02071.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0197 a0001c0001t0002g0158 a0001c0001t0008g0157 others(12): Show |
18 | 211 | 0.0853 | 4 | c.199 others(21): Show |
ADNP2 | ENSG00000101544.9 | transcript | ENST00000262198.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ADNP2_chr18_80104262_80145346 | 80134418 | T | TGTGA | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG00741.hp1 others(23): Show |
a0001a0008 | a0001c0003a0001c0016a0008c0017 | a0001c0003t0004a0001c0003t0007a0001c0003t0013others(2): Show | a0001c0003t0004g0003 a0001c0003t0004g0009 a0001c0003t0004g0059 others(13): Show |
26 | 366 | 0.0710 | 4 | c.199 others(21): Show |
ADNP2 | ENSG00000101544.9 | transcript | ENST00000262198.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ADNP_chr20_50883918_50936437 | 50913250 | C | CAAAA | intron_variant | MODIFIER | HG00558.hp1 HG01934.hp1 HG02004.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(10): Show | a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0001t0001g0163 others(18): Show |
21 | 28 | 0.7500 | 4 | c.-89 others(21): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
ADNP_chr20_50883918_50936437 | 50919285 | T | TTACA | intron_variant | MODIFIER | HG01891.hp2 HG02300.hp2 HG02630.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0008a0001c0002t0013a0001c0003t0041 | a0001c0001t0008g0317 a0001c0002t0013g0022 a0001c0003t0041g0296 others(1): Show |
4 | 251 | 0.0159 | 4 | c.-90 others(21): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
ADNP_chr20_50883918_50936437 | 50919291 | G | GTATA | intron_variant | MODIFIER | HG01256.hp2 HG03710.hp2 NA18944.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0024 | a0001c0001t0001g0167 a0001c0001t0004g0205 a0001c0001t0024g0088 |
3 | 199 | 0.0151 | 4 | c.-90 others(21): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
ADNP_chr20_50883918_50936437 | 50922578 | G | GTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG01943.hp2 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0286 others(17): Show |
22 | 188 | 0.1170 | 4 | c.-90 others(21): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
ADNP_chr20_50883918_50936437 | 50925263 | T | TACAC | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00609.hp2 others(102): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0165 a0001c0001t0002g0008 a0001c0001t0002g0236 others(97): Show |
105 | 218 | 0.4817 | 4 | c.-90 others(21): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
ADORA1_chr1_203122726_203172405 | 203143539 | C | CTGTG | intron_variant | MODIFIER | HG01928.hp2 HG02109.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0314 others(1): Show |
4 | 263 | 0.0152 | 4 | c.341 others(23): Show |
ADORA1 | ENSG00000163485.18 | transcript | ENST00000337894.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADORA1_chr1_203122726_203172405 | 203144081 | T | TACAC | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00639.hp2 others(54): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0099 others(49): Show |
57 | 102 | 0.5588 | 4 | c.341 others(23): Show |
ADORA1 | ENSG00000163485.18 | transcript | ENST00000337894.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADORA1_chr1_203122726_203172405 | 203151788 | G | GCATT | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00642.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0133 a0001c0001t0001g0190 others(27): Show |
35 | 91 | 0.3846 | 4 | c.342 others(23): Show |
ADORA1 | ENSG00000163485.18 | transcript | ENST00000337894.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADORA2A_chr22_24422599_24447357 | 24439072 | C | CTTTT | intron_variant | MODIFIER | HG00438.hp1 HG02080.hp2 HG02738.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0004g0041 others(2): Show |
15 | 157 | 0.0955 | 4 | c.333 others(21): Show |
ADORA2A | ENSG00000128271.22 | transcript | ENST00000337539.12 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ADORA2A_chr22_24422599_24447357 | 24443330 | C | CTTTT | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00735.hp1 others(65): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0024 others(28): Show |
68 | 238 | 0.2857 | 4 | c.*18 others(15): Show |
ADORA2A | ENSG00000128271.22 | transcript | ENST00000337539.12 | protein_coding | 974 | chr22 | TogoVar | |||||||
ADORA3_chr1_111494429_111508633 | 111499090 | C | CAAAA | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00733.hp2 HG00738.hp2 others(24): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0002others(2): Show | a0001c0001t0001g0001 a0001c0001t0002g0022 a0001c0001t0002g0024 others(5): Show |
27 | 130 | 0.2077 | 4 | c.*85 others(13): Show |
ADORA3 | ENSG00000282608.2 | transcript | ENST00000241356.5 | protein_coding | 338 | chr1 | TogoVar | |||||||
ADORA3_chr1_111494429_111508633 | 111502184 | G | GATAC | intron_variant | MODIFIER | HG00438.hp2 HG01069.hp1 HG01071.hp1 others(8): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0006 | 11 | 456 | 0.0241 | 4 | c.350 others(19): Show |
ADORA3 | ENSG00000282608.2 | transcript | ENST00000241356.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
ADORA3_chr1_111494429_111508633 | 111502240 | G | GATAC | intron_variant | MODIFIER | HG00438.hp2 HG02055.hp1 HG02280.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0009a0002c0003t0002 | a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0025 others(4): Show |
18 | 223 | 0.0807 | 4 | c.350 others(19): Show |
ADORA3 | ENSG00000282608.2 | transcript | ENST00000241356.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
ADORA3_chr1_111494429_111508633 | 111506892 | C | CAAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(50): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0003 | a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0046 others(3): Show |
53 | 430 | 0.1233 | 4 | c.-35 others(15): Show |
ADORA3 | ENSG00000282608.2 | transcript | ENST00000241356.5 | protein_coding | 3260 | chr1 | TogoVar | |||||||
ADORA3_chr1_111494429_111508633 | 111506913 | T | TATTA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00733.hp2 others(38): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0002a0001c0002t0003a0001c0011t0001others(2): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0010 others(7): Show |
41 | 251 | 0.1633 | 4 | c.-35 others(15): Show |
ADORA3 | ENSG00000282608.2 | transcript | ENST00000241356.5 | protein_coding | 3281 | chr1 | TogoVar | |||||||
ADORA3_chr1_111494429_111508633 | 111506926 | T | TACAC | upstream_gene_variant | MODIFIER | HG01433.hp2 HG01891.hp1 HG02257.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0008 a0001c0001t0002g0020 a0001c0002t0003g0002 others(1): Show |
7 | 355 | 0.0197 | 4 | c.-35 others(15): Show |
ADORA3 | ENSG00000282608.2 | transcript | ENST00000241356.5 | protein_coding | 3294 | chr1 | TogoVar | |||||||
ADORA3_chr1_111494429_111508633 | 111506926 | T | TATAC | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01192.hp1 HG02055.hp2 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0003others(2): Show | a0001c0001t0002g0009 a0001c0001t0007g0061 a0001c0002t0003g0002 others(3): Show |
18 | 366 | 0.0492 | 4 | c.-35 others(15): Show |
ADORA3 | ENSG00000282608.2 | transcript | ENST00000241356.5 | protein_coding | 3294 | chr1 | TogoVar | |||||||
ADORA3_chr1_111494429_111508633 | 111507009 | A | ATGTG | upstream_gene_variant | MODIFIER | HG02818.hp2 HG03098.hp2 HG03486.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0004 | a0001c0001t0002g0008 a0003c0004t0004g0029 |
3 | 268 | 0.0112 | 4 | c.-36 others(15): Show |
ADORA3 | ENSG00000282608.2 | transcript | ENST00000241356.5 | protein_coding | 3377 | chr1 | TogoVar | |||||||
ADPGK_chr15_72746294_72788758 | 72782527 | C | CAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00597.hp1 others(81): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0071 others(48): Show |
84 | 91 | 0.9231 | 4 | c.233 others(19): Show |
ADPGK | ENSG00000159322.18 | transcript | ENST00000456471.3 | protein_coding | 1/6 | chr15 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113395059 | C | CTTTT | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00673.hp2 HG01358.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0042others(8): Show | a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0136 others(13): Show |
16 | 251 | 0.0637 | 4 | c.*83 others(15): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 4551 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113400151 | T | TTCTA | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG01071.hp2 HG01074.hp1 others(28): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0003others(6): Show | a0001c0001t0106a0002c0002t0071a0002c0003t0008others(18): Show | a0001c0001t0106g0262 a0002c0002t0071g0150 a0002c0003t0008g0027 others(28): Show |
31 | 219 | 0.1416 | 4 | c.*32 others(15): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 3226 | chr13 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113415750 | C | CAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01071.hp2 others(7): Show |
a0002a0004a0005others(1): Show | a0002c0005a0004c0009a0005c0010others(1): Show | a0002c0005t0023a0002c0005t0091a0004c0009t0011others(3): Show | a0002c0005t0023g0071 a0002c0005t0091g0112 a0004c0009t0011g0121 others(7): Show |
10 | 148 | 0.0676 | 4 | c.106 others(23): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424695 | T | TCCAC | intron_variant | MODIFIER | HG00423.hp1 HG01081.hp2 HG02056.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0004a0001c0004t0015others(3): Show | a0001c0004t0001g0131 a0001c0004t0004g0182 a0001c0004t0015g0109 others(3): Show |
6 | 260 | 0.0231 | 4 | c.775 others(19): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113428242 | C | CAAAA | intron_variant | MODIFIER | HG01358.hp2 HG01981.hp1 HG01993.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 others(12): Show |
15 | 46 | 0.3261 | 4 | c.646 others(19): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113448465 | C | CAAAA | intron_variant | MODIFIER | HG01099.hp2 HG02280.hp1 HG02622.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0001a0001c0001t0050a0002c0002t0074others(1): Show | a0001c0001t0001g0033 a0001c0001t0001g0212 a0001c0001t0050g0082 others(2): Show |
5 | 124 | 0.0403 | 4 | c.215 others(21): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113456887 | G | GTATT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp1 others(75): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0004a0001c0043others(19): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(41): Show | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0202 others(75): Show |
78 | 260 | 0.3000 | 4 | c.-34 others(15): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 3400 | chr13 | TogoVar | |||||||
ADPRM_chr17_10692594_10716558 | 10696071 | T | TAAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(98): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0002c0002t0007others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0092 a0001c0001t0001g0111 others(37): Show |
101 | 278 | 0.3633 | 4 | c.-16 others(15): Show |
ADPRM | ENSG00000170222.12 | transcript | ENST00000379774.5 | protein_coding | 1522 | chr17 | TogoVar | |||||||
ADPRM_chr17_10692594_10716558 | 10704200 | C | CAAAG | intron_variant | MODIFIER | HG00741.hp1 HG02257.hp1 HG02647.hp2 others(3): Show |
a0001a0004 | a0001c0005a0004c0004 | a0001c0005t0005a0004c0004t0006 | a0001c0005t0005g0031 a0001c0005t0005g0082 a0004c0004t0006g0059 others(2): Show |
6 | 400 | 0.0150 | 4 | c.-17 others(19): Show |
ADPRM | ENSG00000170222.12 | transcript | ENST00000379774.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ADPRM_chr17_10692594_10716558 | 10715348 | A | AAACT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(179): Show |
a0001a0002a0003others(3): Show | a0001c0005a0002c0002a0003c0003others(3): Show | a0001c0005t0005a0002c0002t0002a0002c0002t0003others(8): Show | a0001c0005t0005g0031 a0001c0005t0005g0082 a0002c0002t0002g0002 others(81): Show |
182 | 400 | 0.4550 | 4 | c.*42 others(15): Show |
ADPRM | ENSG00000170222.12 | transcript | ENST00000379774.5 | protein_coding | 3791 | chr17 | TogoVar | |||||||
ADPRM_chr17_10692594_10716558 | 10716000 | T | TGATA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(179): Show |
a0001a0002a0003others(3): Show | a0001c0005a0002c0002a0003c0003others(3): Show | a0001c0005t0005a0002c0002t0002a0002c0002t0003others(8): Show | a0001c0005t0005g0031 a0001c0005t0005g0082 a0002c0002t0002g0002 others(81): Show |
182 | 400 | 0.4550 | 4 | c.*48 others(15): Show |
ADPRM | ENSG00000170222.12 | transcript | ENST00000379774.5 | protein_coding | 4443 | chr17 | TogoVar | |||||||
ADPRS_chr1_36083892_36098932 | 36090679 | C | CAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00558.hp1 others(95): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(11): Show |
98 | 113 | 0.8673 | 4 | c.212 others(19): Show |
ADPRS | ENSG00000116863.11 | transcript | ENST00000373178.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADRA1A_chr8_26763809_26872278 | 26772883 | A | ACATG | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp1 others(135): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0010a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0006 a0001c0001t0001g0091 a0001c0001t0001g0095 others(129): Show |
138 | 254 | 0.5433 | 4 | c.884 others(21): Show |
ADRA1A | ENSG00000120907.18 | transcript | ENST00000380573.4 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
ADRA1A_chr8_26763809_26872278 | 26813489 | T | TATCC | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00673.hp2 others(42): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0211 others(40): Show |
45 | 321 | 0.1402 | 4 | c.884 others(23): Show |
ADRA1A | ENSG00000120907.18 | transcript | ENST00000380573.4 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
ADRA1A_chr8_26763809_26872278 | 26816533 | A | ATGTG | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG01123.hp1 others(15): Show |
a0001a0002a0005 | a0001c0001a0001c0020a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0151 others(15): Show |
18 | 132 | 0.1364 | 4 | c.884 others(23): Show |
ADRA1A | ENSG00000120907.18 | transcript | ENST00000380573.4 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
ADRA1A_chr8_26763809_26872278 | 26837650 | C | CAAAA | intron_variant | MODIFIER | HG00733.hp1 HG01884.hp1 HG02055.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0016a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0332 others(27): Show |
30 | 200 | 0.1500 | 4 | c.883 others(23): Show |
ADRA1A | ENSG00000120907.18 | transcript | ENST00000380573.4 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
ADRA1A_chr8_26763809_26872278 | 26842866 | T | TACAC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0150 a0001c0001t0001g0329 a0001c0001t0001g0332 others(50): Show |
53 | 129 | 0.4109 | 4 | c.883 others(23): Show |
ADRA1A | ENSG00000120907.18 | transcript | ENST00000380573.4 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
ADRA1A_chr8_26763809_26872278 | 26861303 | G | GTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(11): Show |
a0001a0002a0010 | a0001c0001a0001c0016a0002c0002others(1): Show | a0001c0001t0002a0001c0016t0001a0002c0002t0002others(1): Show | a0001c0001t0002g0226 a0001c0001t0002g0236 a0001c0016t0001g0326 others(11): Show |
14 | 16 | 0.8750 | 4 | c.883 others(21): Show |
ADRA1A | ENSG00000120907.18 | transcript | ENST00000380573.4 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
ADRA1B_chr5_159911482_159978012 | 159927381 | G | GCACA | intron_variant | MODIFIER | HG00642.hp1 HG01891.hp1 HG01934.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0313 others(1): Show |
4 | 124 | 0.0323 | 4 | c.949 others(21): Show |
ADRA1B | ENSG00000170214.5 | transcript | ENST00000306675.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADRA1B_chr5_159911482_159978012 | 159939252 | G | GGAGA | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG01123.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0150 others(15): Show |
18 | 313 | 0.0575 | 4 | c.949 others(23): Show |
ADRA1B | ENSG00000170214.5 | transcript | ENST00000306675.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADRA1B_chr5_159911482_159978012 | 159941713 | T | TATGG | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG02896.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0204 a0001c0001t0001g0218 others(4): Show |
8 | 382 | 0.0209 | 4 | c.949 others(23): Show |
ADRA1B | ENSG00000170214.5 | transcript | ENST00000306675.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADRA1B_chr5_159911482_159978012 | 159954232 | A | AATTT | intron_variant | MODIFIER | HG00621.hp2 HG02273.hp1 NA18942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 a0001c0001t0001g0262 a0001c0001t0001g0278 others(1): Show |
4 | 382 | 0.0105 | 4 | c.950 others(23): Show |
ADRA1B | ENSG00000170214.5 | transcript | ENST00000306675.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |