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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTSL2_chr9_133529704_133580519 | 133562612 | GGGCACCC others(37): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0035a0001c0001t0007g0112 | 2 | 152 | 0.0132 | -44 | c.174 others(63): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133562731 | CGTGGGCG others(37): Show |
C | intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0018 | a0002c0018t0003 | a0002c0018t0003g0110 | 1 | 152 | 0.0066 | -44 | c.174 others(63): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133562875 | TGGTGGGC others(37): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0108 | 1 | 152 | 0.0066 | -44 | c.174 others(63): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133562884 | CCCGGCTT others(37): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG02280.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001a0001c0019a0001c0031others(1): Show | a0001c0001t0001a0001c0019t0006a0001c0031t0011others(1): Show | a0001c0001t0001g0132a0001c0019t0006g0117a0001c0031t0011g0004others(1): Show | 4 | 152 | 0.0263 | -44 | c.174 others(63): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133562946 | GCACCGCT others(37): Show |
G | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0077 | 1 | 152 | 0.0066 | -44 | c.174 others(63): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | chr9 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83714864 | CCCTCCCT others(37): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01243.hp2 HG01884.hp2 others(13): Show |
a0002a0006a0023 | a0002c0002a0002c0016a0002c0020others(3): Show | a0002c0002t0001a0002c0016t0001a0002c0020t0001others(3): Show | a0002c0002t0001g0112a0002c0002t0001g0113a0002c0002t0001g0114others(13): Show | 16 | 274 | 0.0584 | -44 | c.189 others(63): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAP1_chr7_892900_959680 | 906711 | GGACATCG others(37): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 14 | 0.0714 | -44 | c.389 others(61): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45073979 | GGGTGGCT others(37): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG01943.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0001t0036a0001c0001t0103others(12): Show | a0001c0001t0019g0146a0001c0001t0019g0151a0001c0001t0019g0171others(27): Show | 30 | 350 | 0.0857 | -44 | c.-10 others(54): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 600 | chr21 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45073982 | TGGCTCGG others(37): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00639.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(17): Show | a0001c0001t0002g0023a0001c0001t0002g0025a0001c0001t0002g0248others(29): Show | 33 | 350 | 0.0943 | -44 | c.-10 others(54): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 597 | chr21 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1540737 | CGTAGTTC others(37): Show |
C | intron_variant | MODIFIER | HG02055.hp1 NA18982.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0098a0002c0002t0002g0043 | 2 | 106 | 0.0189 | -44 | c.101 others(65): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1541351 | GGACCCTG others(37): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0040 | 1 | 106 | 0.0094 | -44 | c.101 others(65): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1541776 | GGACCCTG others(37): Show |
G | intron_variant | MODIFIER | HG02040.hp2 HG02080.hp1 HG02083.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0006a0002c0002t0008others(1): Show | a0001c0001t0011g0017a0002c0002t0006g0019a0002c0002t0008g0058others(1): Show | 4 | 106 | 0.0377 | -44 | c.101 others(65): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1542186 | CCCAGACC others(37): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(24): Show | a0001c0001t0001g0065a0001c0001t0003g0085a0001c0001t0003g0094others(32): Show | 35 | 106 | 0.3302 | -44 | c.101 others(65): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1542274 | CCCAGACC others(37): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0009 | 1 | 106 | 0.0094 | -44 | c.101 others(65): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1542714 | TCCAGACC others(37): Show |
T | intron_variant | MODIFIER | HG03041.hp2 HG03540.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0012a0001c0001t0049a0001c0003t0009 | a0001c0001t0012g0009a0001c0001t0049g0040a0001c0003t0009g0046 | 3 | 106 | 0.0283 | -44 | c.101 others(65): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1542745 | CGGATCAC others(37): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01433.hp1 HG01934.hp1 others(15): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0010a0001c0001t0025a0001c0001t0036others(14): Show | a0001c0001t0010g0013a0001c0001t0010g0025a0001c0001t0025g0036others(15): Show | 18 | 106 | 0.1698 | -44 | c.101 others(65): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1542821 | CAGTTCAG others(37): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0029 | 1 | 106 | 0.0094 | -44 | c.101 others(65): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1664203 | TCCGTGTT others(37): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0032 | a0001c0003t0032g0071 | 1 | 106 | 0.0094 | -44 | c.100 others(63): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1680175 | ATATTCTT others(37): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02622.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(10): Show | a0001c0001t0001g0045a0001c0001t0001g0069a0001c0001t0003g0094others(13): Show | 16 | 106 | 0.1509 | -44 | c.100 others(63): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130893798 | GTGTGTGC others(37): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0008a0001c0014a0001c0017 | a0001c0008t0002a0001c0014t0002a0001c0017t0002 | a0001c0008t0002g0174a0001c0008t0002g0214a0001c0008t0002g0215others(2): Show | 5 | 246 | 0.0203 | -44 | c.191 others(63): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 131019799 | CTCTCTCT others(37): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0004 | 1 | 246 | 0.0041 | -44 | c.960 others(63): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 1/17 | chr8 | TogoVar | ||||||
ADGRA3_chr4_22382376_22521066 | 22390359 | TAATACGT others(37): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(208): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0011others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(36): Show | a0001c0001t0001g0022a0001c0001t0001g0026a0001c0001t0001g0035others(208): Show | 211 | 290 | 0.7276 | -44 | c.262 others(63): Show |
ADGRA3 | ENSG00000152990.14 | transcript | ENST00000334304.10 | protein_coding | 17/18 | chr4 | TogoVar | ||||||
ADGRD1_chr12_130948907_131146469 | 131127842 | TCTGAGCT others(37): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG00741.hp1 others(37): Show |
a0001a0011a0012 | a0001c0001a0001c0004a0001c0010others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(11): Show | a0001c0001t0002g0005a0001c0001t0002g0107a0001c0001t0002g0130others(37): Show | 40 | 242 | 0.1653 | -44 | c.217 others(63): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ADGRG1_chr16_57623630_57670567 | 57628889 | TGTGAGTG others(37): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02630.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(1): Show | a0001c0001t0001g0040a0001c0001t0001g0377a0001c0001t0003g0408others(2): Show | 5 | 448 | 0.0112 | -44 | c.-36 others(58): Show |
ADGRG1 | ENSG00000205336.14 | transcript | ENST00000562631.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ADGRG1_chr16_57623630_57670567 | 57628951 | TGAGAGTG others(37): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG01123.hp1 others(55): Show |
a0001a0007 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0390a0001c0001t0002g0402a0001c0001t0003g0005others(49): Show | 58 | 448 | 0.1295 | -44 | c.-36 others(59): Show |
ADGRG1 | ENSG00000205336.14 | transcript | ENST00000562631.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ADGRV1_chr5_90553797_91169437 | 90986075 | CATATATA others(37): Show |
C | intron_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0047 | 1 | 158 | 0.0063 | -44 | c.181 others(63): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 85/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADIG_chr20_38576197_38593463 | 38588573 | GTTCAATG others(37): Show |
G | downstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 372 | 0.0027 | -44 | c.*48 others(53): Show |
ADIG | ENSG00000182035.13 | transcript | ENST00000537425.3 | protein_coding | 111 | chr20 | TogoVar | ||||||
ADRA1D_chr20_4215630_4254287 | 4227660 | TTCCCTCC others(37): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG02809.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0017a0001c0003t0001 | a0001c0001t0017g0151a0001c0003t0001g0040 | 2 | 452 | 0.0044 | -44 | c.111 others(63): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/1 | chr20 | TogoVar | ||||||
AFF1_chr4_86930011_87146039 | 87022560 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG02970.hp2 |
a0001 | a0001c0003 | a0001c0003t0027a0001c0003t0067 | a0001c0003t0027g0186a0001c0003t0027g0188a0001c0003t0067g0187 | 3 | 294 | 0.0102 | -44 | c.39- others(61): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFM_chr4_73476745_73509001 | 73504053 | GATTCATT others(37): Show |
G | downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 368 | 0.0027 | -44 | c.*21 others(53): Show |
AFM | ENSG00000079557.5 | transcript | ENST00000226355.5 | protein_coding | 53 | chr4 | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 48980718 | AATATATA others(37): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03195.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0011a0002c0003t0001 | a0001c0001t0011g0096a0002c0003t0001g0059 | 2 | 104 | 0.0192 | -44 | c.594 others(63): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 5/13 | chr1 | TogoVar | ||||||
AGL_chr1_99845361_99929020 | 99856306 | TCCTCCCT others(37): Show |
T | intron_variant | MODIFIER | HG00741.hp2 | a0005 | a0005c0004 | a0005c0004t0004 | a0005c0004t0004g0267 | 1 | 318 | 0.0031 | -44 | c.83- others(59): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGMO_chr7_15195317_15567015 | 15322549 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0006 | a0006c0012 | a0006c0012t0003 | a0006c0012t0003g0223 | 1 | 236 | 0.0042 | -44 | c.126 others(65): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15531338 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 236 | 0.0042 | -44 | c.409 others(63): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15547131 | TAGAATGT others(37): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01257.hp1 HG02300.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0074a0001c0001t0001g0196a0001c0001t0002g0197others(1): Show | 4 | 236 | 0.0170 | -44 | c.258 others(61): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 2/12 | chr7 | TogoVar | ||||||
AGO1_chr1_35878209_35935532 | 35888992 | GGGACAGA others(37): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00558.hp1 others(106): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0018a0001c0001t0026others(26): Show | a0001c0001t0001g0141a0001c0001t0018g0138a0001c0001t0018g0146others(84): Show | 109 | 278 | 0.3921 | -44 | c.209 others(59): Show |
AGO1 | ENSG00000092847.14 | transcript | ENST00000373204.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGR3_chr7_16854412_16886983 | 16874909 | GAGTTCAA others(37): Show |
G | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 458 | 0.0022 | -44 | c.110 others(61): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 2/7 | chr7 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85541894 | CTAAATAA others(37): Show |
C | downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 302 | 0.0033 | -44 | c.*51 others(55): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 4644 | chr9 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246899826 | TAAGTCAT others(37): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG03209.hp1 |
a0001a0003 | a0001c0019a0003c0020 | a0001c0019t0001a0003c0020t0022 | a0001c0019t0001g0171a0003c0020t0022g0373 | 2 | 376 | 0.0053 | -44 | c.143 others(61): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 10/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246899863 | ATATCTCC others(37): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03098.hp1 |
a0011 | a0011c0016 | a0011c0016t0001 | a0011c0016t0001g0274a0011c0016t0001g0275 | 2 | 376 | 0.0053 | -44 | c.143 others(61): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 10/35 | chr1 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 345082 | GTGTGTGT others(37): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 268 | 0.0037 | -44 | c.62+ others(59): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AIMP1_chr4_106311550_106354456 | 106321967 | TGTGCTGT others(37): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 2 | 384 | 0.0052 | -44 | c.-25 others(61): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77475392 | ATATATAA others(37): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02451.hp1 HG02922.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0003t0004a0001c0009t0004others(3): Show | a0001c0001t0001g0049a0001c0003t0004g0236a0001c0009t0004g0091others(5): Show | 8 | 284 | 0.0282 | -44 | c.106 others(63): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | chr1 | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1587645 | CCCCTCCC others(37): Show |
C | upstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0039 | 1 | 151 | 0.0066 | -44 | c.-41 others(55): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3958 | chrX | TogoVar | ||||||
ALAD_chr9_113381312_113406284 | 113404313 | CTGCAGTA others(37): Show |
C | upstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 446 | 0.0022 | -44 | c.-32 others(55): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 3030 | chr9 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63400239 | ATATACGT others(37): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00558.hp1 others(24): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0050a0001c0001t0001g0247others(24): Show | 27 | 388 | 0.0696 | -44 | c.168 others(61): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63400296 | CGTATATA others(37): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG02155.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0004t0006 | a0001c0001t0002g0027a0001c0001t0002g0037a0001c0001t0002g0178others(3): Show | 6 | 388 | 0.0155 | -44 | c.168 others(61): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63422364 | TAAATATA others(37): Show |
T | intron_variant | MODIFIER | NA18990.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0216a0001c0001t0003g0217 | 2 | 388 | 0.0052 | -44 | c.105 others(63): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63422388 | TATAAATA others(37): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02886.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0234a0001c0001t0008g0235a0001c0001t0008g0236others(1): Show | 4 | 388 | 0.0103 | -44 | c.105 others(63): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALOX12_chr17_6991049_7015754 | 7004277 | AATTAATT others(37): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(300): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0007others(15): Show | a0001c0001t0001a0001c0006t0001a0001c0007t0001others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0010others(168): Show | 303 | 404 | 0.7500 | -44 | c.116 others(61): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |