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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
METTL25B_chr1_156723469_156741960 | 156735534 | T | TAAAAAAA others(409): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 390 | 0.0026 | 416 | c.112 others(433): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
METTL25B_chr1_156723469_156741960 | 156735535 | A | AAAAAAAA others(409): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01074.hp2 HG02027.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0003a0001c0001t0003g0132a0001c0001t0003g0133others(2): Show | 9 | 390 | 0.0231 | 416 | c.112 others(433): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MIER2_chr19_300573_349796 | 310636 | A | AACACAGC others(409): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0105 | 1 | 384 | 0.0026 | 416 | c.984 others(433): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 10/13 | chr19 | TogoVar | ||||||
MRPL24_chr1_156732303_156746088 | 156735534 | T | TAAAAAAA others(409): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG01257.hp2 HG01891.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0012others(4): Show | 10 | 364 | 0.0275 | 416 | c.*18 others(427): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1768 | chr1 | TogoVar | ||||||
MRPL24_chr1_156732303_156746088 | 156735534 | T | TAAAAAAA others(409): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG02622.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0023 | 5 | 364 | 0.0137 | 416 | c.*18 others(427): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1768 | chr1 | TogoVar | ||||||
MRPL24_chr1_156732303_156746088 | 156735534 | T | TAAAAAAA others(409): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 364 | 0.0028 | 416 | c.*18 others(427): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1768 | chr1 | TogoVar | ||||||
MRPL24_chr1_156732303_156746088 | 156735535 | A | AAAAAAAA others(409): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG01074.hp2 HG02027.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0008 | 9 | 364 | 0.0247 | 416 | c.*18 others(427): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1767 | chr1 | TogoVar | ||||||
MRPL28_chr16_361969_375538 | 370388 | C | CCCCTACC others(409): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0093 | 1 | 394 | 0.0025 | 416 | c.-8+ others(429): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
MRPL42_chr12_93462514_93521214 | 93514298 | T | TCTTTTTT others(409): Show |
3_prime_UTR_variant | MODIFIER | HG01099.hp1 HG01123.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0122 | a0001c0001t0037g0021a0001c0001t0037g0125a0001c0001t0122g0021 | 3 | 388 | 0.0077 | 416 | c.*13 others(429): Show |
MRPL42 | ENSG00000198015.14 | transcript | ENST00000549982.6 | protein_coding | 6/6 | 13078 | chr12 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80693360 | G | GATAAATA others(409): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18957.hp1 |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0014 | a0002c0003t0003g0004a0002c0003t0014g0005 | 2 | 362 | 0.0055 | 416 | c.134 others(437): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767763 | A | AGGGGCGC others(409): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 388 | 0.0026 | 416 | c.159 others(433): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MTTP_chr4_99569824_99628997 | 99588843 | A | ACATATAT others(409): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0061 | 1 | 364 | 0.0028 | 416 | c.394 others(431): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MUC4_chr3_195741771_195816929 | 195771114 | C | CGGGTTGG others(409): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0074 | a0074c0167 | a0074c0167t0001 | a0074c0167t0001g0067 | 1 | 249 | 0.0040 | 416 | c.132 others(435): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195771146 | C | CGGGTTGG others(409): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01071.hp2 others(2): Show |
a0005a0128 | a0005c0015a0005c0016a0128c0114 | a0005c0015t0002a0005c0016t0002a0128c0114t0002 | a0005c0015t0002g0070a0005c0015t0002g0085a0005c0016t0002g0180others(2): Show | 5 | 249 | 0.0201 | 416 | c.132 others(435): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATGT others(409): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 362 | 0.0028 | 416 | c.-75 others(435): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(409): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0135 | 1 | 362 | 0.0028 | 416 | c.-75 others(435): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528558 | A | ATGGGCAG others(409): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0053 | a0001c0053t0004 | a0001c0053t0004g0176 | 1 | 324 | 0.0031 | 416 | c.141 others(433): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535509 | G | GGTGGGGG others(409): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0305 | 1 | 324 | 0.0031 | 416 | c.140 others(433): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535625 | A | AGCACTCA others(409): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0005 | a0005c0023 | a0005c0023t0004 | a0005c0023t0004g0066 | 1 | 324 | 0.0031 | 416 | c.140 others(433): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(409): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0150 | 1 | 308 | 0.0033 | 416 | c.730 others(433): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133082514 | C | CTCCCCTC others(409): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 | 1 | 68 | 0.0147 | 416 | c.62- others(435): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133082525 | C | CCCTCCTC others(409): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01192.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0022a0001c0001t0003g0046 | 2 | 68 | 0.0294 | 416 | c.62- others(435): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPRM1_chr6_154034240_154137356 | 154099659 | G | GTATATAC others(409): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03195.hp2 |
a0003 | a0003c0003 | a0003c0003t0107a0003c0003t0108 | a0003c0003t0107g0018a0003c0003t0108g0019 | 2 | 268 | 0.0075 | 416 | c.116 others(435): Show |
OPRM1 | ENSG00000112038.18 | transcript | ENST00000330432.12 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
OPRM1_chr6_154034240_154137356 | 154100218 | C | CATATCAT others(409): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0002 | a0002c0002 | a0002c0002t0070 | a0002c0002t0070g0164 | 1 | 268 | 0.0037 | 416 | c.116 others(435): Show |
OPRM1 | ENSG00000112038.18 | transcript | ENST00000330432.12 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ORC5_chr7_104121341_104213013 | 104124116 | A | AGACAGTA others(409): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01256.hp2 HG01258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008a0001c0001t0002g0025a0001c0001t0002g0266others(6): Show | 10 | 366 | 0.0273 | 416 | c.*27 others(427): Show |
ORC5 | ENSG00000164815.11 | transcript | ENST00000297431.9 | protein_coding | 2224 | chr7 | TogoVar | ||||||
ORC5_chr7_104121341_104213013 | 104124116 | A | AGACAGTA others(409): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG01978.hp1 HG01993.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0052a0001c0001t0002g0007a0001c0001t0002g0020others(8): Show | 11 | 366 | 0.0301 | 416 | c.*27 others(427): Show |
ORC5 | ENSG00000164815.11 | transcript | ENST00000297431.9 | protein_coding | 2224 | chr7 | TogoVar | ||||||
ORC5_chr7_104121341_104213013 | 104124116 | A | AGACAGTA others(409): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0284 | 1 | 366 | 0.0027 | 416 | c.*27 others(427): Show |
ORC5 | ENSG00000164815.11 | transcript | ENST00000297431.9 | protein_coding | 2224 | chr7 | TogoVar | ||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(409): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | 416 | c.*70 others(427): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45898300 | G | GTCCTCAC others(409): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0003 | 1 | 292 | 0.0034 | 416 | c.166 others(433): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45898308 | A | AGCCTCCC others(409): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 292 | 0.0034 | 416 | c.166 others(433): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCED1A_chr20_2830314_2845655 | 2842868 | A | AGATAGAT others(409): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 436 | 0.0023 | 416 | c.-26 others(427): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2214 | chr20 | TogoVar | ||||||
PFKFB3_chr10_6197932_6240532 | 6206842 | G | GCAGCCAG others(409): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0003 | a0001c0003t0066 | a0001c0003t0066g0243 | 1 | 432 | 0.0023 | 416 | c.76+ others(431): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
PIMREG_chr17_6439455_6456469 | 6455724 | G | GGAGGGGA others(409): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG02622.hp1 HG02647.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012a0001c0001t0001g0088a0001c0001t0001g0130others(5): Show | 9 | 312 | 0.0289 | 416 | c.*53 others(427): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 4256 | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6455724 | G | GGAGGGGA others(409): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02622.hp2 HG02647.hp2 others(5): Show |
a0001a0002a0008 | a0001c0001a0002c0004a0008c0017 | a0001c0001t0007a0002c0004t0004a0002c0004t0007others(3): Show | a0001c0001t0007g0109a0002c0004t0004g0042a0002c0004t0007g0039others(5): Show | 8 | 218 | 0.0367 | 416 | c.262 others(431): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 19/19 | chr17 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401552 | G | GCCCGCTC others(409): Show |
intron_variant | MODIFIER | HG00544.hp1 NA19085.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0151a0001c0003t0001g0153 | 2 | 216 | 0.0093 | 416 | c.173 others(433): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 401552 | G | GCCCGCTC others(409): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0137 | 1 | 216 | 0.0046 | 416 | c.173 others(433): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
POU6F1_chr12_51181936_51223062 | 51197043 | T | TGTCTACC others(409): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0070 | 1 | 440 | 0.0023 | 416 | c.847 others(431): Show |
POU6F1 | ENSG00000184271.18 | transcript | ENST00000333640.12 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3163273 | G | GCGCAGAA others(409): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0100 | 1 | 210 | 0.0048 | 416 | c.38- others(433): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKAG2_chr7_151551127_151882115 | 151855369 | A | ACACACAC others(409): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 252 | 0.0040 | 416 | c.114 others(435): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PXDNL_chr8_51314577_51814445 | 51696870 | T | TACACACA others(409): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0070 | 1 | 122 | 0.0082 | 416 | c.165 others(435): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | ||||||
PXDNL_chr8_51314577_51814445 | 51696870 | T | TACACACA others(409): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0051 | 1 | 122 | 0.0082 | 416 | c.165 others(435): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 467834 | C | CTCAGGGA others(409): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0036 | a0001c0001t0013g0026a0001c0001t0013g0027a0001c0001t0013g0028others(4): Show | 7 | 295 | 0.0237 | 416 | c.809 others(433): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGAAGA others(409): Show |
downstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 318 | 0.0031 | 416 | c.*36 others(427): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | ||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(409): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 318 | 0.0031 | 416 | c.*36 others(427): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | ||||||
RETNLB_chr3_108750638_108762410 | 108759512 | T | TGCATACA others(409): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 452 | 0.0022 | 416 | c.-23 others(427): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2103 | chr3 | TogoVar | ||||||
RETNLB_chr3_108750638_108762410 | 108759538 | C | CATATGTA others(409): Show |
upstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 | 1 | 452 | 0.0022 | 416 | c.-23 others(427): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2129 | chr3 | TogoVar | ||||||
RGPD5_chr2_109789305_109862705 | 109794584 | G | GGGGGGGA others(409): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0026 | 1 | 40 | 0.0250 | 416 | c.72+ others(427): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RNF213_chr17_80255852_80403794 | 80355600 | G | GGGAAGAA others(409): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0093 | a0093c0106 | a0093c0106t0018 | a0093c0106t0018g0032 | 1 | 292 | 0.0034 | 416 | c.108 others(437): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 36/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RNF213_chr17_80255852_80403794 | 80355637 | G | GGGAAGAA others(409): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02132.hp2 |
a0001 | a0001c0004 | a0001c0004t0007a0001c0004t0011 | a0001c0004t0007g0047a0001c0004t0011g0048 | 2 | 292 | 0.0069 | 416 | c.108 others(437): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 36/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 304161 | G | GATGGGGA others(409): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 133 | 0.0075 | 416 | c.351 others(435): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar |