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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VIPR2_chr7_159023175_159149867 | 159090446 | ACAATCCC others(60): Show |
A | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0141 | 1 | 336 | 0.0030 | -67 | c.357 others(86): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
VIPR2_chr7_159023175_159149867 | 159090593 | ACCTCAGC others(60): Show |
A | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG02630.hp1 others(2): Show |
a0001a0003 | a0001c0006a0003c0017 | a0001c0006t0012a0003c0017t0006 | a0001c0006t0012g0145a0001c0006t0012g0147a0001c0006t0012g0148others(1): Show | 5 | 336 | 0.0149 | -67 | c.357 others(86): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
VIPR2_chr7_159023175_159149867 | 159090878 | ACTGGGAT others(60): Show |
A | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 336 | 0.0030 | -67 | c.357 others(86): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
VIPR2_chr7_159023175_159149867 | 159090916 | ACAATCCC others(60): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0178 | 1 | 336 | 0.0030 | -67 | c.357 others(86): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 509416 | ATATCAAA others(60): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(44): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0016others(28): Show | a0001c0001t0002g0121a0001c0001t0002g0128a0001c0001t0002g0133others(44): Show | 47 | 232 | 0.2026 | -67 | c.*96 others(78): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 22/22 | 9645 | chr17 | TogoVar | |||||
VPS9D1_chr16_89702134_89725898 | 89717963 | CGACCTCT others(60): Show |
C | intron_variant | MODIFIER | HG00673.hp2 NA18960.hp2 NA18964.hp2 others(6): Show |
a0001a0008 | a0001c0001a0008c0017 | a0001c0001t0001a0008c0017t0001 | a0001c0001t0001g0008a0001c0001t0001g0118a0001c0001t0001g0124others(1): Show | 9 | 430 | 0.0209 | -67 | c.175 others(83): Show |
VPS9D1 | ENSG00000075399.14 | transcript | ENST00000389386.8 | protein_coding | 2/14 | chr16 | TogoVar | ||||||
WASHC2C_chr10_45722266_45797964 | 45784243 | TGTGTGTG others(60): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(111): Show |
a0001a0003a0006others(7): Show | a0001c0001a0003c0003a0006c0006others(8): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(108): Show | 114 | 380 | 0.3000 | -67 | c.247 others(84): Show |
WASHC2C | ENSG00000172661.20 | transcript | ENST00000623400.4 | protein_coding | 23/30 | chr10 | TogoVar | ||||||
WDR37_chr10_1051385_1137372 | 1099899 | AGTGGTGG others(60): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00609.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0047a0001c0001t0003g0248a0001c0001t0003g0301others(42): Show | 45 | 362 | 0.1243 | -67 | c.727 others(84): Show |
WDR37 | ENSG00000047056.18 | transcript | ENST00000263150.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
YJU2_chr19_4242080_4274088 | 4247583 | GTGTGTGT others(60): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0001a0001c0005t0001 | a0001c0004t0001g0029a0001c0005t0001g0056 | 2 | 384 | 0.0052 | -67 | c.24+ others(80): Show |
YJU2 | ENSG00000105248.16 | transcript | ENST00000262962.12 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
YME1L1_chr10_27105111_27159384 | 27106841 | TATATATA others(60): Show |
T | downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0305 | 1 | 388 | 0.0026 | -67 | c.*50 others(78): Show |
YME1L1 | ENSG00000136758.20 | transcript | ENST00000376016.8 | protein_coding | 3269 | chr10 | TogoVar | ||||||
ZFAND3_chr6_37814727_38159624 | 38041734 | TCCTCCTC others(60): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG01261.hp1 HG02056.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0023a0001c0004t0001 | a0001c0001t0001g0094a0001c0001t0001g0096a0001c0001t0001g0106others(7): Show | 10 | 318 | 0.0315 | -67 | c.113 others(86): Show |
ZFAND3 | ENSG00000156639.12 | transcript | ENST00000287218.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ZNF148_chr3_125220669_125380325 | 125343442 | GGGATTGT others(60): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(218): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0009a0001c0001t0001g0070a0001c0001t0001g0074others(218): Show | 221 | 332 | 0.6657 | -67 | c.-23 others(88): Show |
ZNF148 | ENSG00000163848.21 | transcript | ENST00000360647.9 | protein_coding | 1/8 | chr3 | TogoVar | ||||||
ZNF276_chr16_89716537_89745925 | 89717963 | CGACCTCT others(60): Show |
C | upstream_gene_variant | MODIFIER | HG00673.hp2 NA18941.hp2 NA18960.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0244others(2): Show | 6 | 420 | 0.0143 | -67 | c.-36 others(78): Show |
ZNF276 | ENSG00000158805.12 | transcript | ENST00000443381.7 | protein_coding | 3573 | chr16 | TogoVar | ||||||
ZNF407_chr18_74592870_75070671 | 74915820 | AAGCATTG others(60): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0052 | 1 | 92 | 0.0109 | -67 | c.525 others(86): Show |
ZNF407 | ENSG00000215421.10 | transcript | ENST00000299687.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ZNF407_chr18_74592870_75070671 | 74915999 | ATGTGTGT others(60): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0019 | a0002c0019t0004 | a0002c0019t0004g0030 | 1 | 92 | 0.0109 | -67 | c.525 others(86): Show |
ZNF407 | ENSG00000215421.10 | transcript | ENST00000299687.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ZNF440_chr19_11809273_11840216 | 11811897 | AAAGAAAG others(60): Show |
A | upstream_gene_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0093 | 1 | 376 | 0.0027 | -67 | c.-25 others(78): Show |
ZNF440 | ENSG00000171295.13 | transcript | ENST00000304060.10 | protein_coding | 2375 | chr19 | TogoVar | ||||||
ZNF491_chr19_11793523_11813503 | 11811897 | AAAGAAAG others(60): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp2 HG02895.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003a0001c0001t0003g0024a0001c0001t0003g0044 | 3 | 390 | 0.0077 | -67 | c.*46 others(78): Show |
ZNF491 | ENSG00000177599.13 | transcript | ENST00000323169.10 | protein_coding | 3395 | chr19 | TogoVar | ||||||
ZNF511_chr10_133303914_133318161 | 133317915 | CCCCCCCC others(60): Show |
C | downstream_gene_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 | 1 | 282 | 0.0036 | -67 | c.*50 others(78): Show |
ZNF511 | ENSG00000198546.15 | transcript | ENST00000361518.10 | protein_coding | 4755 | chr10 | TogoVar | ||||||
ZNF536_chr19_30367384_30563059 | 30500515 | ACTCCTGG others(60): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG01192.hp1 others(37): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(11): Show | a0001c0001t0001g0066a0001c0002t0001g0034a0001c0002t0001g0072others(37): Show | 40 | 212 | 0.1887 | -67 | c.217 others(88): Show |
ZNF536 | ENSG00000198597.10 | transcript | ENST00000355537.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AAGAB_chr15_67195667_67259661 | 67246628 | CACCAATC others(59): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(106): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0007others(1): Show | a0002c0002t0001g0151a0002c0002t0003g0007a0002c0002t0003g0008others(104): Show | 109 | 380 | 0.2868 | -66 | c.73+ others(81): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69637243 | TTCCCTGA others(59): Show |
T | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0149 | a0001c0001t0149g0280 | 1 | 298 | 0.0034 | -66 | c.163 others(83): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862646 | GGCCGGGC others(59): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0029 | a0029c0110 | a0029c0110t0002 | a0029c0110t0002g0165 | 1 | 318 | 0.0031 | -66 | c.422 others(81): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCC5_chr3_183914934_184022884 | 184020760 | GGTAGAGA others(59): Show |
G | upstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039 | 1 | 378 | 0.0027 | -66 | c.-30 others(77): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 2877 | chr3 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42267443 | CGAGTTCT others(59): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0142a0001c0001t0001g0263a0001c0001t0004g0265others(1): Show | 4 | 354 | 0.0113 | -66 | c.287 others(83): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABR_chr17_998519_1184981 | 1074018 | TGAATCAC others(59): Show |
T | intron_variant | MODIFIER | HG01943.hp2 HG02135.hp2 HG02615.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0007a0001c0001t0010others(7): Show | a0001c0001t0006g0206a0001c0001t0007g0317a0001c0001t0007g0333others(8): Show | 11 | 337 | 0.0326 | -66 | c.701 others(81): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 6/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1074123 | CAGCACAC others(59): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02622.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0038a0001c0003t0083 | a0001c0002t0038g0013a0001c0003t0083g0285 | 2 | 337 | 0.0059 | -66 | c.701 others(81): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 6/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1121681 | CAGGCAGG others(59): Show |
C | intron_variant | MODIFIER | HG02965.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178a0001c0001t0001g0226 | 2 | 337 | 0.0059 | -66 | c.246 others(83): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714757 | ACCACTGA others(59): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0071 | 1 | 344 | 0.0029 | -66 | c.127 others(83): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
ACTRT3_chr3_169761921_169774561 | 169770953 | CATAAATA others(59): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0042a0001c0001t0003g0010 | 2 | 418 | 0.0048 | -66 | c.-14 others(77): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1393 | chr3 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39045048 | GTATGTGT others(59): Show |
G | intron_variant | MODIFIER | NA18953.hp2 NA18972.hp2 NA19056.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261a0001c0001t0001g0306a0001c0001t0001g0316others(1): Show | 4 | 332 | 0.0121 | -66 | c.130 others(85): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 100162525 | TATACACA others(59): Show |
T | intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0029 | a0002c0029t0025 | a0002c0029t0025g0212 | 1 | 228 | 0.0044 | -66 | c.118 others(85): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100276059 | GGGAGGGA others(59): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0106 | 1 | 228 | 0.0044 | -66 | c.789 others(83): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 4/21 | chr15 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72550015 | AGAAGAAG others(59): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG02723.hp2 HG03540.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0099a0001c0001t0001g0152a0001c0001t0001g0153others(3): Show | 6 | 182 | 0.0330 | -66 | c.98- others(81): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
ADAMTS7_chr15_78754206_78816464 | 78767080 | ACCCTGGG others(59): Show |
A | intron_variant | MODIFIER | HG03831.hp2 | a0003 | a0003c0061 | a0003c0061t0003 | a0003c0061t0003g0189 | 1 | 380 | 0.0026 | -66 | c.286 others(81): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 18/23 | chr15 | TogoVar | ||||||
ADAMTS8_chr11_130399923_130433609 | 130431459 | TTGGCTAT others(59): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(235): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0025a0001c0027others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(38): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(164): Show | 238 | 424 | 0.5613 | -66 | c.-32 others(77): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 2851 | chr11 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1373787 | ACTCCGCG others(59): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG01433.hp2 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0006others(2): Show | a0001c0001t0003a0001c0001t0013a0001c0001t0035others(15): Show | a0001c0001t0003g0097a0001c0001t0013g0007a0001c0001t0035g0079others(17): Show | 20 | 106 | 0.1887 | -66 | c.187 others(83): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1464160 | GCAGTCAC others(59): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG02027.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0014others(3): Show | a0001c0001t0009a0001c0001t0055a0001c0001t0059others(8): Show | a0001c0001t0009g0055a0001c0001t0055g0089a0001c0001t0059g0092others(8): Show | 11 | 106 | 0.1038 | -66 | c.101 others(85): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1464747 | GCTGGGGG others(59): Show |
G | intron_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0095 | 1 | 106 | 0.0094 | -66 | c.101 others(85): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADGRA3_chr4_22382376_22521066 | 22390322 | ATATATAT others(59): Show |
A | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0216 | 1 | 290 | 0.0035 | -66 | c.262 others(85): Show |
ADGRA3 | ENSG00000152990.14 | transcript | ENST00000334304.10 | protein_coding | 17/18 | chr4 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142501659 | GGTGGTAG others(59): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(156): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0023others(153): Show | 159 | 310 | 0.5129 | -66 | c.267 others(85): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADH1C_chr4_99331497_99357746 | 99355851 | CGTTCTGT others(59): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp2 others(32): Show |
a0002a0005 | a0002c0003a0002c0006a0005c0008 | a0002c0003t0001a0002c0006t0001a0005c0008t0001 | a0002c0003t0001g0028a0002c0003t0001g0029a0002c0003t0001g0048others(23): Show | 35 | 360 | 0.0972 | -66 | c.-32 others(77): Show |
ADH1C | ENSG00000248144.6 | transcript | ENST00000515683.6 | protein_coding | 3106 | chr4 | TogoVar | ||||||
ADRA2C_chr4_3761385_3773526 | 3767481 | CCGAGAGG others(59): Show |
C | disruptive_inframe_deletion | MODERATE | HG03041.hp2 | a0005 | a0005c0013 | a0005c0013t0003 | a0005c0013t0003g0000 | 1 | 420 | 0.0024 | -66 | c.878 others(73): Show |
p.Glu others(13): Show |
ADRA2C | ENSG00000184160.8 | transcript | ENST00000330055.7 | protein_coding | 1/1 | 1100/2142 | 878/1389 | 293/462 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
ADTRP_chr6_11708523_11783803 | 11780991 | GGCTGCAC others(59): Show |
G | upstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 410 | 0.0024 | -66 | c.-22 others(77): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 2189 | chr6 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235700975 | ATATATGT others(59): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG01884.hp1 HG02109.hp1 others(19): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(5): Show | a0001c0002t0043a0001c0003t0002a0001c0003t0003others(17): Show | a0001c0002t0043g0064a0001c0003t0002g0005a0001c0003t0003g0001others(19): Show | 22 | 98 | 0.2245 | -66 | c.164 others(83): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGMO_chr7_15195317_15567015 | 15201542 | TGTGAAGA others(59): Show |
T | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 236 | 0.0042 | -66 | c.126 others(83): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15322537 | TATATATA others(59): Show |
T | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 236 | 0.0042 | -66 | c.126 others(87): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15322634 | ATATATAA others(59): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02109.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0007t0001 | a0001c0001t0001g0185a0001c0001t0001g0186a0001c0001t0004g0031others(1): Show | 4 | 236 | 0.0170 | -66 | c.126 others(87): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77444390 | TATAGTAT others(59): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG01993.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(3): Show | a0001c0001t0001g0104a0001c0001t0001g0111a0001c0001t0003g0168others(10): Show | 13 | 284 | 0.0458 | -66 | c.105 others(87): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK8_chr9_132720578_132883284 | 132821733 | GTATATTT others(59): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0033a0002c0003t0001g0014 | 2 | 266 | 0.0075 | -66 | c.889 others(83): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 9/12 | chr9 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132821739 | TTGTATGT others(59): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG02015.hp1 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0149a0001c0001t0001g0168 | 3 | 266 | 0.0113 | -66 | c.889 others(83): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 9/12 | chr9 | TogoVar |