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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF365_chr10_62369369_62407450 | 62370114 | CATATATA others(51): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp1 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0097 a0001c0001t0016g0098 |
2 | 350 | 0.0057 | -58 | c.-43 others(69): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 4254 | chr10 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76392909 | AAGGCAGG others(51): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0003 | a0003c0007 | a0003c0007t0048 | a0003c0007t0048g0335 a0003c0007t0048g0336 |
2 | 346 | 0.0058 | -58 | c.181 others(79): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ZNF554_chr19_2814868_2841735 | 2817813 | AACTAAGG others(51): Show |
A | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0008 | a0008c0020 | a0008c0020t0009 | a0008c0020t0009g0165 | 1 | 410 | 0.0024 | -58 | c.-22 others(69): Show |
ZNF554 | ENSG00000172006.12 | transcript | ENST00000317243.10 | protein_coding | 2054 | chr19 | TogoVar | |||||||
ZNF609_chr15_64455578_64691068 | 64577334 | TACATATA others(51): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01069.hp2 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007a0001c0002t0011others(2): Show | a0001c0002t0003g0114 a0001c0002t0003g0119 a0001c0002t0003g0122 others(22): Show |
25 | 176 | 0.1421 | -58 | c.748 others(77): Show |
ZNF609 | ENSG00000180357.10 | transcript | ENST00000326648.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ZNF609_chr15_64455578_64691068 | 64577358 | CATATATG others(51): Show |
C | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 176 | 0.0057 | -58 | c.748 others(77): Show |
ZNF609 | ENSG00000180357.10 | transcript | ENST00000326648.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ZNF627_chr19_11592483_11624161 | 11605389 | TGCTAATA others(51): Show |
T | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 322 | 0.0031 | -58 | c.3+7 others(71): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF713_chr7_55882456_55947225 | 55887723 | GGGGGGCG others(51): Show |
G | intron_variant | MODIFIER | HG00597.hp2 NA18957.hp2 NA18959.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0026a0001c0001t0041 | a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 others(4): Show |
7 | 410 | 0.0171 | -58 | c.-58 others(74): Show |
ZNF713 | ENSG00000178665.16 | transcript | ENST00000429591.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZNF716_chr7_57445177_57478559 | 57446024 | TCTCTCTC others(51): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0004 | a0002c0004t0010 | a0002c0004t0010g0075 | 1 | 422 | 0.0024 | -58 | c.-42 others(69): Show |
ZNF716 | ENSG00000182111.9 | transcript | ENST00000420713.2 | protein_coding | 4152 | chr7 | TogoVar | |||||||
ZNF716_chr7_57445177_57478559 | 57446026 | TCTCTCTC others(51): Show |
T | upstream_gene_variant | MODIFIER | HG02622.hp2 HG02895.hp1 HG02897.hp2 |
a0002 | a0002c0004 | a0002c0004t0010a0002c0004t0031 | a0002c0004t0010g0031 a0002c0004t0010g0077 a0002c0004t0031g0031 |
3 | 422 | 0.0071 | -58 | c.-42 others(69): Show |
ZNF716 | ENSG00000182111.9 | transcript | ENST00000420713.2 | protein_coding | 4150 | chr7 | TogoVar | |||||||
ZNF716_chr7_57445177_57478559 | 57446027 | CTCTCTCT others(51): Show |
C | upstream_gene_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0004 | a0002c0004t0010 | a0002c0004t0010g0076 | 1 | 422 | 0.0024 | -58 | c.-42 others(69): Show |
ZNF716 | ENSG00000182111.9 | transcript | ENST00000420713.2 | protein_coding | 4149 | chr7 | TogoVar | |||||||
ZNF732_chr4_265675_310474 | 299386 | CATATGTA others(51): Show |
C | intron_variant | MODIFIER | HG02004.hp1 NA19060.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0079 a0002c0002t0002g0292 |
2 | 326 | 0.0061 | -58 | c.4-3 others(71): Show |
ZNF732 | ENSG00000186777.13 | transcript | ENST00000419098.6 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ZRANB3_chr2_135191969_135536218 | 135493098 | AATATATA others(51): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0007 | a0002c0007t0007 | a0002c0007t0007g0199 | 1 | 214 | 0.0047 | -58 | c.161 others(77): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 2/20 | chr2 | TogoVar | |||||||
ZYG11B_chr1_52721453_52832336 | 52803097 | TACATATA others(51): Show |
T | intron_variant | MODIFIER | HG02698.hp1 NA18954.hp1 NA18971.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 others(2): Show |
5 | 352 | 0.0142 | -58 | c.169 others(76): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52803111 | TATATATA others(51): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00597.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0018others(7): Show | a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0001g0066 others(23): Show |
26 | 352 | 0.0739 | -58 | c.169 others(76): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52803115 | TATACACA others(51): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0262 | 1 | 352 | 0.0028 | -58 | c.169 others(76): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52803183 | TATATACA others(51): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02818.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0270 a0001c0001t0005g0346 a0001c0001t0005g0347 |
3 | 352 | 0.0085 | -58 | c.169 others(77): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52803185 | TATACACA others(51): Show |
T | intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0193 | 1 | 352 | 0.0028 | -58 | c.169 others(77): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52803207 | CACACATA others(51): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01257.hp2 HG01258.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0016a0001c0001t0078 | a0001c0001t0009g0054 a0001c0001t0016g0015 a0001c0001t0016g0016 others(3): Show |
6 | 352 | 0.0171 | -58 | c.169 others(77): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52803221 | TATACACA others(51): Show |
T | intron_variant | MODIFIER | HG03195.hp2 NA19030.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0336 a0001c0001t0014g0337 a0001c0001t0014g0339 |
3 | 352 | 0.0085 | -58 | c.169 others(77): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125138143 | TCCTCCTC others(50): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG03471.hp1 HG06807.hp1 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027 |
3 | 364 | 0.0082 | -57 | c.188 others(76): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81119632 | CGGCCCCG others(50): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0027 | a0003c0027t0001 | a0003c0027t0001g0323 | 1 | 368 | 0.0027 | -57 | c.388 others(73): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 12/13 | chr17 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862661 | GGCCGGGC others(50): Show |
G | intron_variant | MODIFIER | HG03453.hp1 | a0032 | a0032c0083 | a0032c0083t0001 | a0032c0083t0001g0313 | 1 | 318 | 0.0031 | -57 | c.422 others(72): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA9_chr17_68969488_69065927 | 69043080 | CAGTGACA others(50): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG03516.hp2 others(1): Show |
a0001a0013a0019 | a0001c0001a0001c0021a0013c0022others(1): Show | a0001c0001t0001a0001c0021t0003a0013c0022t0003others(1): Show | a0001c0001t0001g0012 a0001c0021t0003g0015 a0013c0022t0003g0014 others(1): Show |
4 | 312 | 0.0128 | -57 | c.800 others(72): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | chr17 | TogoVar | |||||||
ABCG1_chr21_42214140_42302244 | 42284022 | CCCCGCCC others(50): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0282 | 1 | 354 | 0.0028 | -57 | c.735 others(72): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50896542 | CCTGCCCC others(50): Show |
C | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0088 | 1 | 376 | 0.0027 | -57 | c.781 others(74): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50896574 | TGAATTTC others(50): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(106): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0012others(4): Show | a0001c0001t0001g0105 a0002c0002t0002g0001 a0002c0002t0002g0003 others(98): Show |
109 | 376 | 0.2899 | -57 | c.781 others(74): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1153578 | GGGAGGGC others(50): Show |
G | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 | 1 | 337 | 0.0030 | -57 | c.61+ others(74): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ACAN_chr15_88798436_88880353 | 88855507 | TGGGCTTC others(50): Show |
T | conservative_inframe_deletion | MODERATE | HG00544.hp2 HG01081.hp1 HG01192.hp1 others(28): Show |
a0003a0050a0063others(4): Show | a0003c0003a0003c0011a0003c0030others(10): Show | a0003c0003t0001a0003c0011t0001a0003c0030t0001others(10): Show | a0003c0003t0001g0031 a0003c0003t0001g0033 a0003c0003t0001g0037 others(28): Show |
31 | 368 | 0.0842 | -57 | c.323 others(66): Show |
p.Thr others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3619/8960 | 3238/7707 | 1080/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88855823 | ACTGCCCC others(50): Show |
A | disruptive_inframe_deletion | MODERATE | NA18940.hp2 NA18955.hp1 NA19080.hp2 others(1): Show |
a0014 | a0014c0016 | a0014c0016t0001 | a0014c0016t0001g0186 a0014c0016t0001g0187 a0014c0016t0001g0188 others(1): Show |
4 | 368 | 0.0109 | -57 | c.363 others(66): Show |
p.Ala others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4017/8960 | 3636/7707 | 1212/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856221 | CGCTGCCC others(50): Show |
C | conservative_inframe_deletion | MODERATE | HG02145.hp2 HG02559.hp1 HG02572.hp2 others(5): Show |
a0014a0027a0028others(1): Show | a0014c0153a0027c0053a0027c0107others(3): Show | a0014c0153t0001a0027c0053t0002a0027c0107t0015others(4): Show | a0014c0153t0001g0026 a0027c0053t0002g0006 a0027c0053t0002g0164 others(5): Show |
8 | 368 | 0.0217 | -57 | c.415 others(66): Show |
p.Ala others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4531/8960 | 4150/7707 | 1384/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856735 | GCTGCCCC others(50): Show |
G | disruptive_inframe_deletion | MODERATE | HG01123.hp1 HG01346.hp2 HG01517.hp2 others(7): Show |
a0012a0038a0081others(2): Show | a0012c0022a0012c0125a0012c0166others(4): Show | a0012c0022t0001a0012c0125t0001a0012c0166t0001others(5): Show | a0012c0022t0001g0041 a0012c0022t0001g0112 a0012c0022t0001g0249 others(7): Show |
10 | 368 | 0.0272 | -57 | c.417 others(66): Show |
p.Asp others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4551/8960 | 4170/7707 | 1390/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856755 | CATCAGCG others(50): Show |
C | disruptive_inframe_deletion | MODERATE | HG01361.hp2 HG02602.hp2 HG02630.hp1 |
a0062a0082a0083 | a0062c0118a0082c0147a0083c0178 | a0062c0118t0001a0082c0147t0001a0083c0178t0001 | a0062c0118t0001g0274 a0082c0147t0001g0270 a0083c0178t0001g0286 |
3 | 368 | 0.0082 | -57 | c.422 others(66): Show |
p.Glu others(15): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4605/8960 | 4224/7707 | 1408/2568 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
ACAP3_chr1_1287391_1312930 | 1288755 | TCCCGTGT others(50): Show |
T | downstream_gene_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 295 | 0.0034 | -57 | c.*47 others(68): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3635 | chr1 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72530599 | TTAAAATA others(50): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG02074.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0038 a0002c0002t0001g0144 |
2 | 182 | 0.0110 | -57 | c.504 others(76): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72550024 | AGAAGAAG others(50): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02615.hp1 HG02630.hp2 others(1): Show |
a0001a0003 | a0001c0003a0001c0004a0003c0007 | a0001c0003t0001a0001c0004t0008a0003c0007t0006 | a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0004t0008g0017 others(1): Show |
4 | 182 | 0.0220 | -57 | c.98- others(72): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 898099 | GGAGCCCT others(50): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 14 | 0.0714 | -57 | c.*76 others(66): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 11/11 | 765 | chr7 | TogoVar | ||||||
ADCYAP1R1_chr7_31047308_31116474 | 31069831 | AAAGCAAG others(50): Show |
A | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0107 | 1 | 322 | 0.0031 | -57 | c.157 others(74): Show |
ADCYAP1R1 | ENSG00000078549.16 | transcript | ENST00000304166.9 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
ADGB_chr6_146593972_146820462 | 146691437 | TATATAAA others(50): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0021 | a0021c0078 | a0021c0078t0002 | a0021c0078t0002g0233 | 1 | 276 | 0.0036 | -57 | c.148 others(74): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 11/35 | chr6 | TogoVar | |||||||
ADGRV1_chr5_90553797_91169437 | 90697457 | TGAGGATT others(50): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02976.hp2 HG03209.hp1 others(1): Show |
a0032a0054a0059others(1): Show | a0032c0049a0054c0048a0059c0050others(1): Show | a0032c0049t0001a0054c0048t0003a0059c0050t0001others(1): Show | a0032c0049t0001g0066 a0054c0048t0003g0065 a0059c0050t0001g0152 others(1): Show |
4 | 158 | 0.0253 | -57 | c.815 others(74): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 34/89 | chr5 | TogoVar | |||||||
AGAP1_chr2_235489043_236136793 | 235572976 | TTTCTTCT others(50): Show |
T | intron_variant | MODIFIER | HG01358.hp2 HG02572.hp1 HG02572.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0004others(6): Show | a0001c0001t0002g0002 a0001c0001t0002g0060 a0001c0001t0002g0070 others(9): Show |
12 | 98 | 0.1225 | -57 | c.163 others(76): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15531317 | CATATATT others(50): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0011 | a0011c0023 | a0011c0023t0007 | a0011c0023t0007g0227 | 1 | 236 | 0.0042 | -57 | c.409 others(76): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15531467 | ATATATAT others(50): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG02027.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0058 a0001c0001t0009g0119 |
2 | 236 | 0.0085 | -57 | c.409 others(76): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGO2_chr8_140515156_140640633 | 140595764 | ATTATATT others(50): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(116): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(58): Show | a0001c0001t0001g0062 a0001c0001t0001g0158 a0001c0001t0001g0226 others(116): Show |
119 | 338 | 0.3521 | -57 | c.23- others(74): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 391880 | GGGCGCAG others(50): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG02280.hp1 HG03453.hp1 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0013a0002c0002t0001a0004c0003t0024 | a0001c0001t0013g0150 a0002c0002t0001g0080 a0004c0003t0024g0029 |
3 | 268 | 0.0112 | -57 | c.351 others(76): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 391890 | TGAGGCAG others(50): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG03669.hp1 NA18906.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0060a0002c0002t0001 | a0001c0001t0001g0256 a0001c0001t0060g0261 a0002c0002t0001g0255 |
3 | 268 | 0.0112 | -57 | c.351 others(76): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 392035 | GGGCGCAG others(50): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG02258.hp2 HG02896.hp1 others(2): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0003a0006c0006others(1): Show | a0001c0001t0017a0004c0003t0009a0004c0003t0022others(2): Show | a0001c0001t0017g0264 a0004c0003t0009g0224 a0004c0003t0022g0243 others(2): Show |
5 | 268 | 0.0187 | -57 | c.351 others(76): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 402282 | TGGAAGGC others(50): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02145.hp2 others(5): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0003a0006c0006others(1): Show | a0001c0001t0007a0001c0001t0009a0001c0001t0045others(3): Show | a0001c0001t0007g0032 a0001c0001t0007g0219 a0001c0001t0009g0030 others(5): Show |
8 | 268 | 0.0299 | -57 | c.352 others(76): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 402355 | ATGAGGGT others(50): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG01069.hp1 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0141 others(16): Show |
19 | 268 | 0.0709 | -57 | c.352 others(76): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHR_chr7_17293652_17351147 | 17349840 | ATACATTT others(50): Show |
A | downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0001 | 1 | 370 | 0.0027 | -57 | c.*67 others(68): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 3694 | chr7 | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1596798 | CTGTGCCC others(50): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00558.hp2 others(46): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0004a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(40): Show |
49 | 151 | 0.3245 | -57 | c.911 others(74): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | chrX | TogoVar |