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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IL18R1_chr2_102350796_102403776 | 102352800 | T | TAATATAA others(1100): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 366 | 0.0027 | 1107 | c.-36 others(1118): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2995 | chr2 | TogoVar | |||||||
IL18R1_chr2_102350796_102403776 | 102352800 | T | TAATATAA others(1100): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01099.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0027 | a0001c0001t0003g0006 a0001c0001t0003g0172 a0001c0001t0003g0174 others(2): Show |
10 | 366 | 0.0273 | 1107 | c.-36 others(1118): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2995 | chr2 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102352800 | T | TAATATAA others(1100): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0022 | 1 | 348 | 0.0029 | 1107 | c.*87 others(1116): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 764 | chr2 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102352800 | T | TAATATAA others(1100): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01099.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0014 a0002c0002t0002g0022 a0002c0002t0002g0046 others(2): Show |
10 | 348 | 0.0287 | 1107 | c.*87 others(1116): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 764 | chr2 | TogoVar | |||||||
IQCB1_chr3_121764761_121840060 | 121786167 | T | TAAGAAGA others(1100): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0007 | a0007c0013 | a0007c0013t0003 | a0007c0013t0003g0027 | 1 | 308 | 0.0033 | 1107 | c.127 others(1126): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876946 | T | TGGAGGTT others(1100): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0220 | 1 | 274 | 0.0037 | 1107 | c.224 others(1126): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543918 | G | GTGCTGGT others(1100): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0231 | 1 | 342 | 0.0029 | 1107 | c.152 others(1124): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(1100): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 272 | 0.0037 | 1107 | c.-12 others(1128): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492477 | C | CCCAGGGC others(1100): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0254 | 1 | 295 | 0.0034 | 1107 | c.126 others(1126): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 494827 | T | TGGGAGGT others(1100): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0154 | 1 | 295 | 0.0034 | 1107 | c.126 others(1126): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33820898 | T | TGTGGCTC others(1100): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03209.hp1 |
a0002a0041 | a0002c0044a0041c0041 | a0002c0044t0003a0041c0041t0002 | a0002c0044t0003g0105 a0041c0041t0002g0114 |
2 | 154 | 0.0130 | 1107 | c.108 others(1124): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 78/103 | chr15 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414399 | G | GGGGGGCC others(1100): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0006 | a0001c0006t0014 | a0001c0006t0014g0302 | 1 | 373 | 0.0027 | 1107 | c.115 others(1124): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637435 | T | TTATATAT others(1100): Show |
downstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 268 | 0.0037 | 1107 | c.*72 others(1118): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3901 | chr10 | TogoVar | |||||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(1100): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 270 | 0.0037 | 1107 | c.-78 others(1126): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948595 | G | GGGGATGT others(1100): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 a0001c0001t0001g0313 |
2 | 356 | 0.0056 | 1107 | c.114 others(1124): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
WDR70_chr5_37374318_37758435 | 37557914 | A | AACTCTTC others(1100): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0081 | 1 | 242 | 0.0041 | 1107 | c.917 others(1126): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
WDR70_chr5_37374318_37758435 | 37557914 | A | AACTCTTC others(1100): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0082 | 1 | 242 | 0.0041 | 1107 | c.917 others(1126): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46292556 | G | GCAAGTTA others(1100): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 404 | 0.0025 | 1107 | c.339 others(1124): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1101): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0151 | 1 | 238 | 0.0042 | 1108 | c.787 others(1123): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1101): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 242 | 0.0041 | 1108 | c.927 others(1125): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1101): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0028 | 1 | 242 | 0.0041 | 1108 | c.927 others(1125): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758617 | A | ACTCATTC others(1101): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0044 | a0044c0043 | a0044c0043t0001 | a0044c0043t0001g0042 | 1 | 300 | 0.0033 | 1108 | c.654 others(1127): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 421529 | A | ACACACAT others(1101): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 432 | 0.0023 | 1108 | c.413 others(1125): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
CENPM_chr22_41933737_41952152 | 41939884 | A | AAGAAAGA others(1101): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0200 | 1 | 258 | 0.0039 | 1108 | c.403 others(1123): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58798137 | T | TAAGAAAT others(1101): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0194 | 1 | 204 | 0.0049 | 1108 | c.223 others(1127): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
CYBC1_chr17_82437586_82455752 | 82438820 | C | CCATACAA others(1101): Show |
downstream_gene_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0036 | 1 | 416 | 0.0024 | 1108 | c.*51 others(1119): Show |
CYBC1 | ENSG00000178927.19 | transcript | ENST00000306645.10 | protein_coding | 3765 | chr17 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98595554 | A | ACATGGAC others(1101): Show |
intron_variant | MODIFIER | HG00597.hp2 NA18982.hp2 |
a0001 | a0001c0002a0001c0024 | a0001c0002t0009a0001c0024t0001 | a0001c0002t0009g0095 a0001c0024t0001g0116 |
2 | 164 | 0.0122 | 1108 | c.322 others(1127): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98595554 | A | ACATGGAC others(1101): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG00738.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(35): Show | a0001c0001t0001g0158 a0001c0001t0008g0121 a0001c0001t0011g0055 others(40): Show |
43 | 164 | 0.2622 | 1108 | c.322 others(1127): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98595554 | A | ACATGGAC others(1101): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18955.hp2 NA18969.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0023 | a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0003t0023g0132 |
3 | 164 | 0.0183 | 1108 | c.322 others(1127): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98595554 | A | ACATGGAC others(1101): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0004 | a0002c0004t0036 | a0002c0004t0036g0046 | 1 | 164 | 0.0061 | 1108 | c.322 others(1127): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98595554 | A | ACATGGAC others(1101): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02896.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0010a0002c0004t0002 | a0001c0001t0010g0044 a0002c0004t0002g0021 |
2 | 164 | 0.0122 | 1108 | c.322 others(1127): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98595554 | A | ACATGGAC others(1101): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG01070.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0039others(16): Show | a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0005g0160 others(25): Show |
28 | 164 | 0.1707 | 1108 | c.322 others(1127): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98595554 | A | ACATGGAC others(1101): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02572.hp2 NA20129.hp1 others(1): Show |
a0001a0002 | a0001c0007a0001c0013a0002c0014 | a0001c0007t0011a0001c0007t0033a0001c0013t0017others(1): Show | a0001c0007t0011g0052 a0001c0007t0033g0005 a0001c0013t0017g0053 others(1): Show |
4 | 164 | 0.0244 | 1108 | c.322 others(1127): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98595554 | A | ACATGGAC others(1101): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0018 | a0002c0018t0002 | a0002c0018t0002g0023 | 1 | 164 | 0.0061 | 1108 | c.322 others(1127): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABBR2_chr9_98283109_98713935 | 98595554 | A | ACATGGAC others(1101): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02630.hp2 |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0011a0002c0009t0002 | a0001c0001t0011g0061 a0002c0009t0002g0063 |
2 | 164 | 0.0122 | 1108 | c.322 others(1127): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113841676 | T | TTCCATAC others(1101): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 143 | 0.0070 | 1108 | c.344 others(1125): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4/14 | chr13 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591956 | T | TGTTGAGG others(1101): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 397 | 0.0025 | 1108 | c.*48 others(1119): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 3845 | chr5 | TogoVar | |||||||
IL18R1_chr2_102350796_102403776 | 102352810 | A | ATGTATTT others(1101): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0018 | a0001c0001t0013g0208 a0001c0001t0018g0209 |
2 | 366 | 0.0055 | 1108 | c.-36 others(1119): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2985 | chr2 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102352810 | A | ATGTATTT others(1101): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG02723.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0173 a0003c0003t0001g0174 |
2 | 348 | 0.0058 | 1108 | c.*88 others(1117): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 774 | chr2 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1101): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 HG02965.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0018 | 2 | 436 | 0.0046 | 1108 | c.*56 others(1119): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1101): Show |
downstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 436 | 0.0023 | 1108 | c.*56 others(1119): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1101): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00735.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002a0001c0002t0003 | a0001c0001t0003g0003 a0001c0001t0003g0071 a0001c0002t0002g0002 others(1): Show |
10 | 436 | 0.0229 | 1108 | c.*56 others(1119): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1101): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 NA18947.hp2 NA18955.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0084 a0001c0002t0002g0002 |
3 | 436 | 0.0069 | 1108 | c.*56 others(1119): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1101): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 2 | 436 | 0.0046 | 1108 | c.*56 others(1119): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1101): Show |
downstream_gene_variant | MODIFIER | NA19012.hp1 NA19064.hp2 NA19079.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0008 | 4 | 436 | 0.0092 | 1108 | c.*56 others(1119): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1101): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0027 | 1 | 134 | 0.0075 | 1108 | c.575 others(1129): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1101): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0004 | a0004c0008 | a0004c0008t0003 | a0004c0008t0003g0003 | 1 | 134 | 0.0075 | 1108 | c.575 others(1129): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(1101): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0051 |
2 | 67 | 0.0299 | 1108 | c.159 others(1125): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(1101): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0297 | 1 | 304 | 0.0033 | 1108 | c.66+ others(1123): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388443 | G | GCTATAGC others(1101): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0070 | 1 | 304 | 0.0033 | 1108 | c.66+ others(1123): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |