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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1834): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0016 | a0016c0035 | a0016c0035t0001 | a0016c0035t0001g0067 | 1 | 45 | 0.0222 | 1841 | c.289 others(1860): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1834): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 45 | 0.0222 | 1841 | c.289 others(1860): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1834): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0108 | 1 | 45 | 0.0222 | 1841 | c.289 others(1860): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1834): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 45 | 0.0222 | 1841 | c.289 others(1860): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1834): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 | 1 | 45 | 0.0222 | 1841 | c.289 others(1860): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1834): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0096 | 1 | 45 | 0.0222 | 1841 | c.289 others(1860): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1834): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03225.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0020 |
3 | 47 | 0.0638 | 1841 | c.289 others(1860): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185119 | C | CCCCTTCT others(1834): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0032 | a0032c0066 | a0032c0066t0002 | a0032c0066t0002g0092 | 1 | 146 | 0.0068 | 1841 | c.193 others(1860): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241267 | C | CGGGGCCC others(1834): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 176 | 0.0057 | 1841 | c.107 others(1860): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241360 | G | GGCCCTCC others(1834): Show |
intron_variant | MODIFIER | NA18962.hp1 NA18962.hp2 |
a0001 | a0001c0004a0001c0008 | a0001c0004t0001a0001c0008t0002 | a0001c0004t0001g0112 a0001c0008t0002g0171 |
2 | 169 | 0.0118 | 1841 | c.107 others(1860): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241360 | G | GGCCCTCC others(1834): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01981.hp1 HG01993.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 a0001c0001t0001g0119 a0001c0001t0001g0133 others(1): Show |
4 | 171 | 0.0234 | 1841 | c.107 others(1860): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | AGTATGTA others(1834): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01943.hp2 HG02293.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0258 a0001c0004t0001g0259 a0001c0004t0001g0260 |
3 | 212 | 0.0142 | 1841 | c.292 others(1860): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535833 | A | AGGGGGGG others(1834): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0155 | 1 | 285 | 0.0035 | 1841 | c.140 others(1858): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 266819 | C | CTCTGCGT others(1834): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0289 | 1 | 316 | 0.0032 | 1841 | c.-49 others(1852): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4826 | chr5 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397832 | A | AGGGGGGC others(1834): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0167 | 1 | 126 | 0.0079 | 1841 | c.227 others(1858): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397972 | C | CGGGGGGG others(1834): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0118 | 1 | 260 | 0.0038 | 1841 | c.227 others(1858): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | chr22 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397973 | A | AGGGGGCC others(1834): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0199 | 1 | 257 | 0.0039 | 1841 | c.227 others(1858): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1098238 | A | ACCCAGGC others(1834): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 81 | 0.0123 | 1841 | c.125 others(1858): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870126 | A | ACACACCA others(1834): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 290 | 0.0034 | 1841 | c.*35 others(1860): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1834): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 146 | 0.0068 | 1841 | c.114 others(1858): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399442 | T | TCACCGCC others(1835): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0075 | 1 | 248 | 0.0040 | 1842 | c.-25 others(1859): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(1835): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0183 | 1 | 3 | 0.3333 | 1842 | c.-12 others(1861): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133354202 | A | ATGGTGGT others(1835): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0053 | 1 | 15 | 0.0667 | 1842 | c.61+ others(1861): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133354202 | A | ATGGTGGT others(1835): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0061 | 1 | 15 | 0.0667 | 1842 | c.61+ others(1861): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237773 | C | CACTACTA others(1835): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 277 | 0.0036 | 1842 | c.-15 others(1853): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1512 | chr14 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCGTGCAC others(1835): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0205 | 1 | 149 | 0.0067 | 1842 | c.129 others(1859): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1836): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 50 | 0.0200 | 1843 | c.147 others(1860): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(1836): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0241 | 1 | 251 | 0.0040 | 1843 | c.955 others(1860): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333123 | C | CAGATAAG others(1836): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 314 | 0.0032 | 1843 | c.891 others(1860): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 312128 | A | ATGGGGCA others(1836): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0141 | 1 | 153 | 0.0065 | 1843 | c.917 others(1858): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 6/9 | chrX | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(1836): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 13 | 0.0769 | 1843 | c.978 others(1860): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60567703 | A | AGGCCTTA others(1836): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0341 | 1 | 326 | 0.0031 | 1843 | c.119 others(1860): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RCC1L_chr7_75037183_75078802 | 75058095 | T | TTACAGTG others(1836): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 49 | 0.0204 | 1843 | c.970 others(1858): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8501886 | G | GGGGGGGG others(1836): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0004 | a0001c0004t0027 | a0001c0004t0027g0106 | 1 | 56 | 0.0179 | 1843 | c.880 others(1860): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 8/22 | chr1 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1836): Show |
intron_variant | MODIFIER | HG01516.hp2 NA20752.hp1 |
a0005a0010 | a0005c0055a0010c0009 | a0005c0055t0001a0010c0009t0001 | a0005c0055t0001g0038 a0010c0009t0001g0086 |
2 | 127 | 0.0157 | 1843 | c.45- others(1858): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495152 | C | CTATAGTA others(1836): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 120 | 0.0083 | 1843 | c.-93 others(1860): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25757917 | A | ACTCATTC others(1837): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0003 | a0003c0013 | a0003c0013t0002 | a0003c0013t0002g0287 | 1 | 277 | 0.0036 | 1844 | c.655 others(1863): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758725 | C | CCTAACTC others(1837): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0048 | a0048c0080 | a0048c0080t0002 | a0048c0080t0002g0296 | 1 | 165 | 0.0061 | 1844 | c.654 others(1863): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 421009 | A | AAATACAC others(1837): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 412 | 0.0024 | 1844 | c.413 others(1861): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706333 | G | GATAGATA others(1837): Show |
upstream_gene_variant | MODIFIER | NA20805.hp1 | a0005 | a0005c0024 | a0005c0024t0008 | a0005c0024t0008g0214 | 1 | 324 | 0.0031 | 1844 | c.-50 others(1855): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4867 | chr4 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399424 | T | TCACCACC others(1837): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 174 | 0.0057 | 1844 | c.-25 others(1861): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1837): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0021 | 1 | 210 | 0.0048 | 1844 | c.*22 others(1855): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3977154 | G | GCAGAGGG others(1837): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0104 | 1 | 104 | 0.0096 | 1844 | c.199 others(1863): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1838): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 76 | 0.0132 | 1845 | c.955 others(1862): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
B3GAT1_chr11_134373508_134417242 | 134408929 | T | TTCCAGTG others(1838): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02622.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0180 a0002c0002t0001g0179 |
2 | 333 | 0.0060 | 1845 | c.-28 others(1864): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2539206 | G | GAGGAGGG others(1838): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0010 | a0001c0010t0008 | a0001c0010t0008g0069 | 1 | 38 | 0.0263 | 1845 | c.139 others(1866): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262009 | C | CGTTTAAG others(1838): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0073 | 1 | 287 | 0.0035 | 1845 | c.-95 others(1864): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(1838): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0007 | a0007c0008 | a0007c0008t0024 | a0007c0008t0024g0252 a0007c0008t0024g0253 |
2 | 128 | 0.0156 | 1845 | c.-95 others(1864): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(1838): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0251 | 1 | 127 | 0.0079 | 1845 | c.-95 others(1864): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(1838): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02602.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0254 a0001c0001t0003g0260 a0001c0001t0010g0194 |
3 | 129 | 0.0233 | 1845 | c.-95 others(1864): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |