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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1814): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 50 | 0.0200 | 1821 | c.147 others(1838): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1814): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 50 | 0.0200 | 1821 | c.147 others(1838): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136802876 | G | GGGGGCCC others(1814): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 376 | 0.0027 | 1821 | c.666 others(1836): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803145 | G | GCCGGGGG others(1814): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 218 | 0.0046 | 1821 | c.666 others(1836): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC40_chr17_80031642_80105613 | 80082245 | C | CCAGGCGT others(1814): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 160 | 0.0063 | 1821 | c.198 others(1838): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CCDC40_chr17_80031642_80105613 | 80082245 | C | CCAGGCGT others(1814): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 160 | 0.0063 | 1821 | c.198 others(1838): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173044 | C | CCTCTCCT others(1814): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0005 | a0005c0012 | a0005c0012t0007 | a0005c0012t0007g0046 | 1 | 117 | 0.0085 | 1821 | c.*11 others(1842): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997382 | G | GGGGGCGG others(1814): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0003 | a0001c0003t0029 | a0001c0003t0029g0332 | 1 | 361 | 0.0028 | 1821 | c.-20 others(1832): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 288 | chr6 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCTGCCCA others(1814): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02965.hp1 |
a0001 | a0001c0042a0001c0075 | a0001c0042t0001a0001c0075t0001 | a0001c0042t0001g0328 a0001c0075t0001g0309 |
2 | 13 | 0.1538 | 1821 | c.228 others(1838): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1814): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0016 | a0016c0022 | a0016c0022t0001 | a0016c0022t0001g0306 | 1 | 126 | 0.0079 | 1821 | c.45- others(1836): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TMEM163_chr2_134450759_134724000 | 134609092 | G | GAGGACAG others(1814): Show |
intron_variant | MODIFIER | HG03486.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0191 a0001c0001t0005g0218 |
2 | 217 | 0.0092 | 1821 | c.323 others(1840): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | |||||||
CCDC40_chr17_80031642_80105613 | 80082245 | C | CCAGGCGT others(1815): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0019 | a0002c0019t0002 | a0002c0019t0002g0037 | 1 | 160 | 0.0063 | 1822 | c.198 others(1839): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173084 | T | TCTCTCTC others(1815): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0003 | a0003c0018 | a0003c0018t0002 | a0003c0018t0002g0027 | 1 | 142 | 0.0070 | 1822 | c.*11 others(1843): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(1815): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0186 | 1 | 3 | 0.3333 | 1822 | c.-12 others(1841): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77485015 | G | GTGATTGT others(1815): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0123 | 1 | 9 | 0.1111 | 1822 | c.914 others(1839): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77485015 | G | GTGATTGT others(1815): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0013 | 1 | 9 | 0.1111 | 1822 | c.860 others(1839): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SULT6B1_chr2_37162820_37193670 | 37166480 | T | TCCTCCCT others(1815): Show |
downstream_gene_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0123 | 1 | 209 | 0.0048 | 1822 | c.*14 others(1833): Show |
SULT6B1 | ENSG00000138068.12 | transcript | ENST00000535679.6 | protein_coding | 1339 | chr2 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ATACACAC others(1815): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 35 | 0.0286 | 1822 | c.*35 others(1841): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1815): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0022 | 1 | 21 | 0.0476 | 1822 | c.127 others(1839): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1815): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0052 | 1 | 21 | 0.0476 | 1822 | c.127 others(1839): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1815): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0164 | 1 | 21 | 0.0476 | 1822 | c.127 others(1839): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1815): Show |
intron_variant | MODIFIER | NA18968.hp1 NA18984.hp1 NA18990.hp1 others(3): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0002c0002t0005a0003c0004t0001 | a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0069 others(3): Show |
6 | 26 | 0.2308 | 1822 | c.127 others(1839): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1815): Show |
intron_variant | MODIFIER | NA18995.hp2 NA19088.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0160 a0003c0004t0001g0161 |
2 | 22 | 0.0909 | 1822 | c.127 others(1839): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1815): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0053 | 1 | 21 | 0.0476 | 1822 | c.127 others(1839): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CCDC40_chr17_80031642_80105613 | 80082245 | C | CCAGGCGT others(1816): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0026 | a0026c0070 | a0026c0070t0001 | a0026c0070t0001g0211 | 1 | 160 | 0.0063 | 1823 | c.198 others(1840): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CCDC40_chr17_80031642_80105613 | 80082245 | C | CCAGGCGT others(1816): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0004 | 1 | 160 | 0.0063 | 1823 | c.198 others(1840): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CCDC40_chr17_80031642_80105613 | 80082245 | C | CCAGGCGT others(1816): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(72): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0003others(10): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(72): Show |
75 | 234 | 0.3205 | 1823 | c.198 others(1840): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CCDC40_chr17_80031642_80105613 | 80082245 | C | CCAGGCGT others(1816): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0258 | 1 | 160 | 0.0063 | 1823 | c.198 others(1840): Show |
CCDC40 | ENSG00000141519.15 | transcript | ENST00000397545.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(1816): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0057 | 1 | 176 | 0.0057 | 1823 | c.373 others(1840): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(1816): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0100 | 1 | 209 | 0.0048 | 1823 | c.*50 others(1834): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1816): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0123 | 1 | 2 | 0.5000 | 1823 | c.438 others(1840): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1816): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0158 | 1 | 126 | 0.0079 | 1823 | c.45- others(1838): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(1816): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0010 | a0001c0010t0071 | a0001c0010t0071g0188 | 1 | 4 | 0.2500 | 1823 | c.291 others(1842): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414399 | G | GGGGGGCC others(1816): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0340 | 1 | 312 | 0.0032 | 1823 | c.115 others(1840): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25757984 | T | TCACCTGC others(1817): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0067 | a0002c0067t0001 | a0002c0067t0001g0053 | 1 | 170 | 0.0059 | 1824 | c.655 others(1843): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287054 | A | ACTACATA others(1817): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0112 | 1 | 433 | 0.0023 | 1824 | c.51+ others(1839): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1198399 | C | CCCAGGAA others(1817): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0002 | 1 | 164 | 0.0061 | 1824 | c.646 others(1839): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471325 | A | AATACATG others(1817): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0133 | 1 | 136 | 0.0074 | 1824 | c.183 others(1843): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(1817): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0105 | 1 | 2 | 0.5000 | 1824 | c.126 others(1841): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1817): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 7 | 0.1429 | 1824 | c.*22 others(1835): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1817): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0002 | 1 | 7 | 0.1429 | 1824 | c.*22 others(1835): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77252918 | C | CACCACCA others(1817): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 |
a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0025 | 2 | 348 | 0.0057 | 1824 | c.666 others(1841): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152741 | A | AACCACCA others(1817): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 270 | 0.0037 | 1824 | c.804 others(1841): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79505662 | T | TGGAAGAG others(1817): Show |
intron_variant | MODIFIER | NA18966.hp1 NA19002.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0072 a0002c0002t0003g0145 |
2 | 138 | 0.0145 | 1824 | c.278 others(1845): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344644 | A | AGGGGGTT others(1817): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 342 | 0.0029 | 1824 | c.4-1 others(1837): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TACATATT others(1817): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0005 | 1 | 8 | 0.1250 | 1824 | c.-20 others(1835): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646433 | A | ACCTCCCT others(1817): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 136 | 0.0074 | 1824 | c.-35 others(1845): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948608 | A | AGAGGGAG others(1817): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 317 | 0.0032 | 1824 | c.114 others(1841): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(1817): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 a0001c0001t0004g0016 |
2 | 63 | 0.0317 | 1824 | c.*53 others(1835): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(1817): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 100 | 0.0100 | 1824 | c.-10 others(1841): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar |