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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1051): Show |
upstream_gene_variant | MODIFIER | NA18967.hp2 NA19083.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 2 | 338 | 0.0059 | 1058 | c.-29 others(1069): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(1051): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0114 | 1 | 6 | 0.1667 | 1058 | c.368 others(1075): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19478057 | A | AGAGGGGG others(1051): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0123 | 1 | 155 | 0.0065 | 1058 | c.525 others(1075): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(1051): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 | 1 | 44 | 0.0227 | 1058 | c.133 others(1077): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(1051): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 210 | 0.0048 | 1058 | c.-5+ others(1073): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1051): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0076 | a0076c0096 | a0076c0096t0001 | a0076c0096t0001g0178 | 1 | 102 | 0.0098 | 1058 | c.252 others(1077): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2035712 | C | CAACAATC others(1051): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0077 | 1 | 99 | 0.0101 | 1058 | c.-15 others(1079): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1051): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 393 | 0.0025 | 1058 | c.*31 others(1069): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248408901 | G | GTAGATAG others(1051): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 266 | 0.0038 | 1058 | c.*17 others(1069): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 882 | chr1 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167968 | T | TTCTCCCC others(1051): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 | 1 | 266 | 0.0038 | 1058 | c.306 others(1077): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCTCC others(1051): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0161 | 1 | 132 | 0.0076 | 1058 | c.126 others(1077): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB37_chr17_74732256_74752335 | 74733490 | G | GGTGTGGT others(1051): Show |
upstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 430 | 0.0023 | 1058 | c.-37 others(1069): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 3765 | chr17 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668588 | C | CTCCCCCC others(1051): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0003 | a0003c0058 | a0003c0058t0002 | a0003c0058t0002g0160 | 1 | 232 | 0.0043 | 1058 | c.249 others(1077): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SLC9A3_chr5_465456_529449 | 507670 | A | ACAGACGC others(1051): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0127 | 1 | 112 | 0.0089 | 1058 | c.212 others(1077): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1051): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0041 |
2 | 29 | 0.0690 | 1058 | c.-50 others(1069): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
TMEM255B_chr13_113754226_113821995 | 113817317 | T | TCCTCCCC others(1051): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0222 | 1 | 126 | 0.0079 | 1058 | c.*54 others(1069): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 323 | chr13 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1051): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 277 | 0.0036 | 1058 | c.129 others(1075): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1051): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 277 | 0.0036 | 1058 | c.129 others(1075): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(1051): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01175.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 2 | 120 | 0.0167 | 1058 | c.*51 others(1069): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | |||||||
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(1051): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG02280.hp1 |
a0003 | a0003c0008 | a0003c0008t0005 | a0003c0008t0005g0024 a0003c0008t0005g0041 |
2 | 120 | 0.0167 | 1058 | c.*51 others(1069): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(1052): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 206 | 0.0049 | 1059 | c.106 others(1078): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1052): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 | 1 | 3 | 0.3333 | 1059 | c.787 others(1074): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1052): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 3 | 0.3333 | 1059 | c.787 others(1074): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
CDHR2_chr5_176544342_176600824 | 176592439 | G | GGTGATGG others(1052): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0155 | 1 | 341 | 0.0029 | 1059 | c.373 others(1076): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | chr5 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | AATATATG others(1052): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0025 | 1 | 177 | 0.0056 | 1059 | c.342 others(1080): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | ATAATATA others(1052): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 177 | 0.0056 | 1059 | c.342 others(1080): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | |||||||
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(1052): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 302 | 0.0033 | 1059 | c.513 others(1076): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(1052): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 302 | 0.0033 | 1059 | c.513 others(1076): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99928008 | G | GTGATGGT others(1052): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0235 | 1 | 230 | 0.0043 | 1059 | c.190 others(1078): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1052): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0283 | 1 | 229 | 0.0044 | 1059 | c.228 others(1076): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1052): Show |
intron_variant | MODIFIER | NA18994.hp1 NA19011.hp2 |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0254 a0006c0008t0001g0256 |
2 | 230 | 0.0087 | 1059 | c.228 others(1076): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1052): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0248 | 1 | 229 | 0.0044 | 1059 | c.228 others(1076): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1052): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0016 | a0002c0016t0002 | a0002c0016t0002g0015 | 1 | 289 | 0.0035 | 1059 | c.-49 others(1070): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1052): Show |
upstream_gene_variant | MODIFIER | NA18941.hp1 NA18949.hp2 NA18975.hp1 others(3): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0005 | a0001c0002t0002a0001c0004t0001a0001c0004t0021others(3): Show | a0001c0002t0002g0061 a0001c0004t0001g0020 a0001c0004t0021g0039 others(3): Show |
6 | 294 | 0.0204 | 1059 | c.-49 others(1070): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1052): Show |
upstream_gene_variant | MODIFIER | NA18983.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0150 | 1 | 289 | 0.0035 | 1059 | c.-49 others(1070): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(1052): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0296 | 1 | 96 | 0.0104 | 1059 | c.119 others(1078): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113817317 | T | TCCTCCCC others(1052): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0129 | 1 | 58 | 0.0172 | 1059 | c.*35 others(1070): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3231 | chr13 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1052): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 132 | 0.0076 | 1059 | c.94- others(1072): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HRNR_chr1_152207076_152229193 | 152213253 | T | TGAGCCAG others(1052): Show |
disruptive_inframe_insertion | MODERATE | NA18988.hp2 NA19082.hp2 NA19084.hp1 |
a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0024 | 3 | 318 | 0.0094 | 1059 | c.837 others(1068): Show |
p.Ser others(1074): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8451/9629 | 8375/8553 | 2792/2850 | chr1 | TogoVar | |||
ICA1_chr7_8108184_8267167 | 8152796 | T | TCCACCAC others(1052): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 149 | 0.0067 | 1059 | c.804 others(1076): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(1052): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 13 | 0.0769 | 1059 | c.978 others(1076): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144233418 | A | ACCCACCA others(1052): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0002 | 1 | 101 | 0.0099 | 1059 | c.133 others(1078): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144233418 | A | ACCCACCA others(1052): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03130.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0001 a0002c0004t0001g0004 |
2 | 102 | 0.0196 | 1059 | c.133 others(1078): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
OPA1_chr3_193588208_193702811 | 193636369 | T | TGGCAATT others(1052): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0160 | 1 | 254 | 0.0039 | 1059 | c.949 others(1074): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 9/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
OPA1_chr3_193588208_193702811 | 193636369 | T | TGGCAATT others(1052): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(38): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0002t0004a0002c0002t0015others(1): Show | a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 others(38): Show |
41 | 294 | 0.1395 | 1059 | c.949 others(1074): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 9/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
OPA1_chr3_193588208_193702811 | 193636369 | T | TGGCAATT others(1052): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0149 | 1 | 254 | 0.0039 | 1059 | c.949 others(1074): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 9/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(1052): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 87 | 0.0115 | 1059 | c.773 others(1074): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PDE3B_chr11_14638804_14877044 | 14841725 | A | ACACCTTC others(1052): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 95 | 0.0105 | 1059 | c.232 others(1078): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RAB40B_chr17_82649973_82703698 | 82672045 | C | CCACCCCT others(1052): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01884.hp2 HG02647.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0042 | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 others(2): Show |
5 | 80 | 0.0625 | 1059 | c.143 others(1076): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1052): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 2 | 196 | 0.0102 | 1059 | c.347 others(1074): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar |