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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1077): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0230 | 1 | 298 | 0.0034 | 1084 | c.955 others(1101): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803215 | G | GGGGCCCC others(1077): Show |
intron_variant | MODIFIER | NA18946.hp1 NA19004.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0010 | 2 | 398 | 0.0050 | 1084 | c.666 others(1099): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC88C_chr14_91266323_91422820 | 91293498 | A | ACCCGCCA others(1077): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03579.hp2 |
a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0078a0005c0010t0001g0127 | 2 | 284 | 0.0070 | 1084 | c.411 others(1101): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1077): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0260 | 1 | 384 | 0.0026 | 1084 | c.273 others(1099): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1077): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG02622.hp1 others(12): Show |
a0001a0002a0007others(1): Show | a0001c0004a0001c0051a0002c0002others(2): Show | a0001c0004t0002a0001c0051t0002a0002c0002t0002others(2): Show | a0001c0004t0002g0049a0001c0004t0002g0052a0001c0051t0002g0054others(10): Show | 15 | 384 | 0.0391 | 1084 | c.273 others(1099): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958151 | C | CACTGCTA others(1077): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0138 | 1 | 230 | 0.0044 | 1084 | c.724 others(1103): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1077): Show |
intron_variant | MODIFIER | NA18952.hp2 NA19005.hp1 |
a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0003 | 2 | 418 | 0.0048 | 1084 | c.119 others(1103): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
GRIN3A_chr9_101564352_101743647 | 101617062 | T | TGGTGGCG others(1077): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01496.hp1 HG01952.hp1 others(4): Show |
a0001a0002a0005 | a0001c0030a0002c0002a0005c0008others(1): Show | a0001c0030t0018a0002c0002t0005a0002c0002t0021others(3): Show | a0001c0030t0018g0005a0002c0002t0005g0289a0002c0002t0005g0292others(4): Show | 7 | 324 | 0.0216 | 1084 | c.261 others(1103): Show |
GRIN3A | ENSG00000198785.7 | transcript | ENST00000361820.6 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163272 | C | CCCTCCCT others(1077): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0021 | 1 | 282 | 0.0036 | 1084 | c.258 others(1101): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KRTAP5-7_chr11_71522267_71533669 | 71522508 | G | GGTGACAC others(1077): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 HG02970.hp2 HG03098.hp1 |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0000 | 3 | 460 | 0.0065 | 1084 | c.-47 others(1095): Show |
KRTAP5-7 | ENSG00000244411.4 | transcript | ENST00000398536.6 | protein_coding | 4758 | chr11 | TogoVar | ||||||
LSS_chr21_46183446_46233774 | 46184457 | C | CACAACCC others(1077): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG02886.hp1 |
a0007 | a0007c0010 | a0007c0010t0014 | a0007c0010t0014g0267a0007c0010t0014g0268 | 2 | 358 | 0.0056 | 1084 | c.*66 others(1095): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 3988 | chr21 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1077): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 228 | 0.0044 | 1084 | c.252 others(1103): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1077): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02818.hp2 others(7): Show |
a0006a0009a0053others(3): Show | a0006c0017a0006c0061a0009c0018others(6): Show | a0006c0017t0001a0006c0017t0002a0006c0061t0002others(7): Show | a0006c0017t0001g0043a0006c0017t0002g0076a0006c0061t0002g0074others(7): Show | 10 | 228 | 0.0439 | 1084 | c.252 others(1103): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1077): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(99): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0020a0001c0021others(69): Show | a0001c0001t0001a0001c0001t0004a0001c0020t0001others(70): Show | a0001c0001t0001g0041a0001c0001t0001g0048a0001c0001t0001g0061others(99): Show | 102 | 228 | 0.4474 | 1084 | c.252 others(1103): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1077): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0057 | 1 | 228 | 0.0044 | 1084 | c.252 others(1103): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
NCAPG2_chr7_158626169_158709804 | 158667955 | T | TCCCTTAC others(1077): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 378 | 0.0027 | 1084 | c.148 others(1103): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
NUDT3_chr6_34274679_34397669 | 34336695 | A | AGACTTTT others(1077): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0235 | 1 | 270 | 0.0037 | 1084 | c.210 others(1101): Show |
NUDT3 | ENSG00000272325.2 | transcript | ENST00000607016.2 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1077): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01099.hp1 HG01099.hp2 others(3): Show |
a0001 | a0001c0002a0001c0014 | a0001c0002t0004a0001c0014t0004 | a0001c0002t0004g0089a0001c0002t0004g0148a0001c0002t0004g0156others(3): Show | 6 | 326 | 0.0184 | 1084 | c.162 others(1103): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1077): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0243 | 1 | 308 | 0.0033 | 1084 | c.371 others(1101): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492455 | T | TCCCCGGG others(1077): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0011 | 1 | 295 | 0.0034 | 1084 | c.126 others(1103): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | ||||||
RAB37_chr17_74732256_74752335 | 74733484 | G | GTGTGTGG others(1077): Show |
upstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0001 | 1 | 432 | 0.0023 | 1084 | c.-37 others(1095): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 3771 | chr17 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136803215 | G | GGGGCCCC others(1077): Show |
upstream_gene_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0058 | 1 | 330 | 0.0030 | 1084 | c.-49 others(1095): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4732 | chr9 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79483438 | G | GCCTCCCT others(1077): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 154 | 0.0065 | 1084 | c.-31 others(1101): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79483438 | G | GCCTCCCT others(1077): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0020others(30): Show | 33 | 154 | 0.2143 | 1084 | c.-31 others(1101): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79483438 | G | GCCTCCCT others(1077): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 | 1 | 154 | 0.0065 | 1084 | c.-31 others(1101): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(1077): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0280a0001c0001t0014g0132 | 2 | 304 | 0.0066 | 1084 | c.66+ others(1099): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SLC6A12_chr12_185081_219157 | 197134 | C | CATCCATC others(1077): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0301 | 1 | 420 | 0.0024 | 1084 | c.107 others(1101): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SPATC1L_chr21_46156160_46189459 | 46184457 | C | CACAACCC others(1077): Show |
5_prime_UTR_variant | MODIFIER | HG02280.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0201a0001c0001t0022g0202 | 2 | 251 | 0.0080 | 1084 | c.-10 others(1095): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 1/5 | 1642 | chr21 | TogoVar | |||||
TMEM68_chr8_55733758_55778378 | 55744303 | T | TAAAAAAC others(1077): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0168 | 1 | 372 | 0.0027 | 1084 | c.749 others(1099): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | ||||||
TMEM68_chr8_55733758_55778378 | 55744307 | T | TAAAATAT others(1077): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 372 | 0.0027 | 1084 | c.749 others(1099): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | ||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1077): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0167 | 1 | 372 | 0.0027 | 1084 | c.749 others(1099): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | ||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1077): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(153): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0012others(131): Show | 156 | 372 | 0.4194 | 1084 | c.749 others(1099): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | ||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1077): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0082 | 1 | 372 | 0.0027 | 1084 | c.749 others(1099): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | ||||||
TRIM28_chr19_58539064_58555715 | 58539222 | A | ACCTGCTT others(1077): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG01123.hp1 HG01123.hp2 others(13): Show |
a0001a0002 | a0001c0003a0002c0009 | a0001c0003t0001a0001c0003t0010a0002c0009t0001 | a0001c0003t0001g0004a0001c0003t0010g0004a0002c0009t0001g0045 | 16 | 402 | 0.0398 | 1084 | c.-55 others(1095): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 4841 | chr19 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50029029 | C | CCTCGTAA others(1077): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0188 | 1 | 224 | 0.0045 | 1084 | c.225 others(1103): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCATCACC others(1077): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 360 | 0.0028 | 1084 | c.*24 others(1095): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1077): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0057 | 1 | 394 | 0.0025 | 1084 | c.129 others(1101): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(1077): Show |
downstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 167 | 0.0060 | 1084 | c.*53 others(1095): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(1078): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0160 | 1 | 182 | 0.0055 | 1085 | c.505 others(1104): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1078): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0226 | 1 | 238 | 0.0042 | 1085 | c.787 others(1100): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1078): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 238 | 0.0042 | 1085 | c.787 others(1100): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1078): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035 | 1 | 238 | 0.0042 | 1085 | c.787 others(1100): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(1078): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0041 | a0001c0041t0001 | a0001c0041t0001g0220 | 1 | 338 | 0.0030 | 1085 | c.300 others(1102): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(1078): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0032 | a0001c0032t0021 | a0001c0032t0021g0265 | 1 | 338 | 0.0030 | 1085 | c.300 others(1102): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CENPM_chr22_41933737_41952152 | 41939818 | A | AAAAGAAA others(1078): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 2 | 258 | 0.0078 | 1085 | c.403 others(1100): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(1078): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 448 | 0.0022 | 1085 | c.51+ others(1100): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924508 | A | AACCCGGC others(1078): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0016 | a0016c0073 | a0016c0073t0007 | a0016c0073t0007g0166 | 1 | 350 | 0.0029 | 1085 | c.489 others(1102): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958279 | T | TCACCACT others(1078): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0220 | 1 | 230 | 0.0044 | 1085 | c.724 others(1104): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2378317 | C | CCTGGGAT others(1078): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0332 | 1 | 384 | 0.0026 | 1085 | c.215 others(1102): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
FBXO47_chr17_38931432_38972403 | 38946629 | T | TAAGTACA others(1078): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011a0001c0001t0004g0341 | 2 | 344 | 0.0058 | 1085 | c.617 others(1102): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar |