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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ROBO2_chr3_77035099_77654964 | 77322918 | A | ATATATTA others(1105): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0008 | a0008c0014 | a0008c0014t0003 | a0008c0014t0003g0147 | 1 | 160 | 0.0063 | 1112 | c.389 others(1133): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SORCS1_chr10_106568663_107169706 | 106854503 | T | TTTGTTTC others(1105): Show |
intron_variant | MODIFIER | HG02056.hp2 NA18977.hp1 NA18981.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003 | a0001c0002t0001g0095 a0001c0002t0002g0028 a0001c0002t0003g0106 |
3 | 130 | 0.0231 | 1112 | c.627 others(1131): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67533933 | C | CAAACATA others(1105): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0268 | 1 | 280 | 0.0036 | 1112 | c.227 others(1129): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(1105): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0031 |
2 | 167 | 0.0120 | 1112 | c.*53 others(1123): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
ZDHHC20_chr13_21367571_21464303 | 21377444 | T | TGCCCGAC others(1105): Show |
intron_variant | MODIFIER | HG00741.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0008 a0001c0001t0007g0011 |
2 | 302 | 0.0066 | 1112 | c.*41 others(1127): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | |||||||
ZDHHC20_chr13_21367571_21464303 | 21377685 | T | TGATCTGA others(1105): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0006 | 1 | 302 | 0.0033 | 1112 | c.*40 others(1127): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | |||||||
CDHR2_chr5_176544342_176600824 | 176591903 | T | TGTTGAGG others(1106): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0132 | 1 | 344 | 0.0029 | 1113 | c.373 others(1130): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54134026 | C | CACCTCCC others(1106): Show |
upstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 1 | 223 | 0.0045 | 1113 | c.-40 others(1124): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3735 | chr19 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(1106): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0003 | a0003c0095 | a0003c0095t0002 | a0003c0095t0002g0311 | 1 | 344 | 0.0029 | 1113 | c.85- others(1130): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(1106): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0075 | 1 | 298 | 0.0034 | 1113 | c.126 others(1130): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 978406 | C | CGTGGGGA others(1106): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0012 | a0001c0012t0012 | a0001c0012t0012g0006 | 1 | 40 | 0.0250 | 1113 | c.73+ others(1130): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438445 | G | GGAGGAGG others(1106): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0108 | a0108c0148 | a0108c0148t0001 | a0108c0148t0001g0131 | 1 | 252 | 0.0040 | 1113 | c.118 others(1132): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99928089 | A | ATGGTGGT others(1106): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0149 | 1 | 288 | 0.0035 | 1113 | c.190 others(1132): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928137 | G | GTGGTGGT others(1106): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0242 | 1 | 288 | 0.0035 | 1113 | c.190 others(1132): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GET4_chr7_871554_901436 | 890250 | T | TAGGACGG others(1106): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0005 | a0001c0005t0040 | a0001c0005t0040g0265 | 1 | 384 | 0.0026 | 1113 | c.467 others(1128): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GPA33_chr1_167047836_167095377 | 167056594 | T | TGTATAGT others(1106): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0100 | 1 | 370 | 0.0027 | 1113 | c.572 others(1128): Show |
GPA33 | ENSG00000143167.12 | transcript | ENST00000367868.4 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
GPA33_chr1_167047836_167095377 | 167056594 | T | TGTATAGT others(1106): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 370 | 0.0027 | 1113 | c.572 others(1128): Show |
GPA33 | ENSG00000143167.12 | transcript | ENST00000367868.4 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591903 | T | TGTTGAGG others(1106): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0060 | 1 | 397 | 0.0025 | 1113 | c.*49 others(1124): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 3898 | chr5 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399220 | C | CCACCACC others(1106): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 314 | 0.0032 | 1113 | c.-25 others(1130): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399225 | A | ACCACCGC others(1106): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 314 | 0.0032 | 1113 | c.-25 others(1130): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399306 | A | ACCACCAC others(1106): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 314 | 0.0032 | 1113 | c.-25 others(1130): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997188 | G | GCGGGGGA others(1106): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0362 | 1 | 375 | 0.0027 | 1113 | c.-22 others(1124): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 482 | chr6 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124610903 | G | GGGTGTTG others(1106): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0114 a0001c0001t0004g0115 |
2 | 260 | 0.0077 | 1113 | c.717 others(1130): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1106): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 7 | 436 | 0.0161 | 1113 | c.*56 others(1124): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(1106): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0125 | 1 | 330 | 0.0030 | 1113 | c.-5+ others(1128): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
NR1H4_chr12_100468866_100569414 | 100562419 | C | CAGGAGGC others(1106): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 308 | 0.0033 | 1113 | c.119 others(1130): Show |
NR1H4 | ENSG00000012504.15 | transcript | ENST00000392986.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664492 | T | TCTCCTCT others(1106): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 | 1 | 326 | 0.0031 | 1113 | c.433 others(1130): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248408326 | T | TGGCAGAT others(1106): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 266 | 0.0038 | 1113 | c.*12 others(1124): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 307 | chr1 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248408326 | T | TGGCAGAT others(1106): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 266 | 0.0038 | 1113 | c.*12 others(1124): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 307 | chr1 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248408519 | A | AGCATTTG others(1106): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 2 | 266 | 0.0075 | 1113 | c.*14 others(1124): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 500 | chr1 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(1106): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0013 | a0013c0019 | a0013c0019t0001 | a0013c0019t0001g0020 | 1 | 188 | 0.0053 | 1113 | c.147 others(1130): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492360 | T | TCCTCCCG others(1106): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0244 | 1 | 295 | 0.0034 | 1113 | c.126 others(1132): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492360 | T | TCCTCCCG others(1106): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 295 | 0.0034 | 1113 | c.126 others(1132): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB40B_chr17_82649973_82703698 | 82671882 | C | CACTGACA others(1106): Show |
intron_variant | MODIFIER | HG02723.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 a0001c0001t0003g0056 |
2 | 338 | 0.0059 | 1113 | c.143 others(1130): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(1106): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0287 | 1 | 304 | 0.0033 | 1113 | c.66+ others(1128): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SORCS1_chr10_106568663_107169706 | 106854503 | T | TTTGTTTC others(1106): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0009 | a0001c0009t0010 | a0001c0009t0010g0039 | 1 | 130 | 0.0077 | 1113 | c.627 others(1132): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106854503 | T | TTTGTTTC others(1106): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0093 | 1 | 130 | 0.0077 | 1113 | c.627 others(1132): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642207 | T | TGCCCAGC others(1106): Show |
downstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 422 | 0.0024 | 1113 | c.*65 others(1124): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4407 | chr20 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67533933 | C | CAAACATA others(1106): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01993.hp2 HG02040.hp2 others(10): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0075 a0001c0001t0001g0101 a0001c0001t0001g0238 others(10): Show |
13 | 280 | 0.0464 | 1113 | c.227 others(1130): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(1106): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0014 | a0014c0030 | a0014c0030t0176 | a0014c0030t0176g0076 | 1 | 384 | 0.0026 | 1113 | c.272 others(1132): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
TMC6_chr17_78102397_78133755 | 78115744 | G | GGCGAAGG others(1106): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0252 | 1 | 444 | 0.0023 | 1113 | c.227 others(1132): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
TPO_chr2_1408463_1548673 | 1524435 | C | CAAATCCC others(1106): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0017 | 1 | 130 | 0.0077 | 1113 | c.261 others(1132): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1106): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 360 | 0.0028 | 1113 | c.*24 others(1124): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(1107): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0013 | a0013c0032 | a0013c0032t0002 | a0013c0032t0002g0245 | 1 | 262 | 0.0038 | 1114 | c.106 others(1133): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251501 | A | AGGGGAAA others(1107): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0110 | 1 | 242 | 0.0041 | 1114 | c.927 others(1131): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1107): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0062 | a0001c0062t0002 | a0001c0062t0002g0208 | 1 | 363 | 0.0028 | 1114 | c.37+ others(1127): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(1107): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0002 | a0002c0008 | a0002c0008t0006 | a0002c0008t0006g0103 | 1 | 210 | 0.0048 | 1114 | c.273 others(1131): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1107): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02723.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0164 |
3 | 226 | 0.0133 | 1114 | c.217 others(1133): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1107): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0168 | 1 | 226 | 0.0044 | 1114 | c.217 others(1133): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(1107): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0079 | 1 | 284 | 0.0035 | 1114 | c.411 others(1131): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar |