| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LUC7L_chr16_183990_234449 | 186034 | AGGAATAC others(622): Show |
A | downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 350 | 0.0029 | -629 | c.*25 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2955 | chr16 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1012578 | AGGATTTA others(622): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01496.hp2 HG01975.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0007others(3): Show | a0001c0001t0001a0002c0003t0001a0003c0007t0001others(3): Show | a0001c0001t0001g0063a0001c0001t0001g0067a0002c0003t0001g0030others(6): Show | 9 | 190 | 0.0474 | -629 | c.72+ others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1013022 | GGGATTTA others(622): Show |
G | intron_variant | MODIFIER | HG02976.hp1 HG03225.hp2 HG03942.hp2 others(1): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0004a0005c0015others(1): Show | a0001c0001t0001a0004c0004t0001a0005c0015t0001others(1): Show | a0001c0001t0001g0125a0004c0004t0001g0047a0005c0015t0001g0153others(1): Show | 4 | 190 | 0.0211 | -629 | c.72+ others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TFB2M_chr1_246535561_246571261 | 246539656 | CGGCCTCC others(622): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01074.hp1 others(8): Show |
a0001 | a0001c0003a0001c0013 | a0001c0003t0002a0001c0013t0002 | a0001c0003t0002g0081a0001c0003t0002g0082a0001c0003t0002g0083others(8): Show | 11 | 446 | 0.0247 | -629 | c.*74 others(10): Show |
TFB2M | ENSG00000162851.8 | transcript | ENST00000366514.5 | protein_coding | 904 | chr1 | TogoVar | ||||||
| THBS3_chr1_155190588_155212897 | 155190777 | GCGGTGGA others(622): Show |
G | downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 298 | 0.0034 | -629 | c.*44 others(11): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4810 | chr1 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1316533 | CGTTTAAA others(621): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02976.hp1 |
a0002 | a0002c0001a0002c0007 | a0002c0001t0002a0002c0007t0008 | a0002c0001t0002g0032a0002c0007t0008g0040 | 2 | 40 | 0.0500 | -628 | c.106 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | ||||||
| MAPK8IP3_chr16_1701195_1775351 | 1737082 | GTCCGTGT others(621): Show |
G | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0203 | 1 | 330 | 0.0030 | -628 | c.603 others(17): Show |
MAPK8IP3 | ENSG00000138834.15 | transcript | ENST00000610761.2 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 746830 | CTCGCCGT others(621): Show |
C | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 366 | 0.0027 | -628 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114006384 | CGGACGCC others(621): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 67 | 0.0149 | -628 | c.174 others(18): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 18/23 | chr13 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80315141 | GTGGTAAA others(621): Show |
G | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 292 | 0.0034 | -628 | c.281 others(19): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SERPINF2_chr17_1737871_1760265 | 1739180 | AGCCTGAT others(621): Show |
A | upstream_gene_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0120 | 1 | 445 | 0.0023 | -628 | c.-37 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3690 | chr17 | TogoVar | ||||||
| SERPINF2_chr17_1737871_1760265 | 1739381 | AGCCGGAC others(621): Show |
A | upstream_gene_variant | MODIFIER | HG02148.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0027 | 1 | 445 | 0.0023 | -628 | c.-35 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3489 | chr17 | TogoVar | ||||||
| SERPINF2_chr17_1737871_1760265 | 1739405 | AGCCTGAT others(621): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 NA20752.hp2 |
a0003 | a0003c0006a0003c0015 | a0003c0006t0001a0003c0015t0001 | a0003c0006t0001g0015a0003c0015t0001g0003 | 2 | 445 | 0.0045 | -628 | c.-35 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3465 | chr17 | TogoVar | ||||||
| SERPINF2_chr17_1737871_1760265 | 1739450 | GGCCTGAT others(621): Show |
G | upstream_gene_variant | MODIFIER | HG03492.hp1 NA18950.hp2 NA18981.hp2 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0004 | a0003c0003t0001g0003a0003c0003t0001g0027a0003c0003t0004g0003 | 3 | 445 | 0.0067 | -628 | c.-34 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3420 | chr17 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1072218 | CAGCCCCC others(621): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0006 | 1 | 118 | 0.0085 | -628 | c.224 others(18): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| TUBGCP2_chr10_133273635_133313872 | 133291738 | CCCGTGTC others(621): Show |
C | intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 284 | 0.0035 | -628 | c.121 others(17): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| WDR81_chr17_1719704_1743585 | 1739381 | AGCCGGAC others(621): Show |
A | downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 | 1 | 431 | 0.0023 | -628 | c.*16 others(11): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 797 | chr17 | TogoVar | ||||||
| WDR81_chr17_1719704_1743585 | 1739405 | AGCCTGAT others(621): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 | 1 | 431 | 0.0023 | -628 | c.*17 others(11): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 821 | chr17 | TogoVar | ||||||
| WDR81_chr17_1719704_1743585 | 1739450 | GGCCTGAT others(621): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp1 HG01928.hp1 HG03704.hp2 others(2): Show |
a0001a0023 | a0001c0003a0001c0062a0023c0057 | a0001c0003t0001a0001c0062t0001a0023c0057t0001 | a0001c0003t0001g0003a0001c0062t0001g0079a0023c0057t0001g0003 | 5 | 431 | 0.0116 | -628 | c.*17 others(11): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 866 | chr17 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393605 | GGGGAGGG others(621): Show |
G | intron_variant | MODIFIER | HG01952.hp2 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0039 | a0001c0001t0014g0052a0001c0001t0039g0188 | 2 | 346 | 0.0058 | -628 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZSWIM5_chr1_45011399_45211605 | 45067895 | ATTATAGT others(621): Show |
A | intron_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0006 | a0002c0006t0008 | a0002c0006t0008g0104 | 1 | 234 | 0.0043 | -628 | c.953 others(17): Show |
ZSWIM5 | ENSG00000162415.7 | transcript | ENST00000359600.6 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
| BTLA_chr3_112458966_112504472 | 112503845 | AAGGAACA others(620): Show |
A | upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 344 | 0.0029 | -627 | c.-51 others(11): Show |
BTLA | ENSG00000186265.10 | transcript | ENST00000334529.10 | protein_coding | 4374 | chr3 | TogoVar | ||||||
| CD38_chr4_15773328_15858232 | 15791177 | GGGGTCAG others(620): Show |
G | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 344 | 0.0029 | -627 | c.233 others(19): Show |
CD38 | ENSG00000004468.13 | transcript | ENST00000226279.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CDH4_chr20_61247261_61945617 | 61783525 | TAGTTCTC others(620): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02895.hp2 HG03130.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0038a0001c0003t0036a0002c0004t0013others(1): Show | a0001c0001t0038g0092a0001c0003t0036g0043a0002c0004t0013g0021others(1): Show | 4 | 106 | 0.0377 | -627 | c.576 others(19): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CFAP46_chr10_132803392_132947570 | 132914028 | CCCCGAGG others(620): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG03017.hp2 HG03942.hp2 others(1): Show |
a0004a0016a0025others(1): Show | a0004c0052a0016c0031a0025c0033others(1): Show | a0004c0052t0001a0016c0031t0002a0025c0033t0001others(1): Show | a0004c0052t0001g0188a0016c0031t0002g0072a0025c0033t0001g0238others(1): Show | 4 | 246 | 0.0163 | -627 | c.212 others(18): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | ||||||
| DSC2_chr18_31053840_31107421 | 31097305 | AATCATTT others(620): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG03486.hp2 |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0007a0004c0005t0080 | a0002c0002t0007g0048a0004c0005t0080g0303 | 2 | 380 | 0.0053 | -627 | c.69+ others(15): Show |
DSC2 | ENSG00000134755.18 | transcript | ENST00000280904.11 | protein_coding | 1/15 | chr18 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132233759 | CGATGGGG others(620): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0120 | 1 | 183 | 0.0055 | -627 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1353297 | CTATCATG others(620): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0012a0001c0001t0006g0080 | 2 | 115 | 0.0174 | -627 | c.616 others(16): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| KANK1_chr9_499695_751103 | 707526 | GTTTCAGA others(620): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02809.hp1 HG03209.hp2 |
a0006a0012 | a0006c0018a0012c0009 | a0006c0018t0001a0006c0018t0002a0012c0009t0001 | a0006c0018t0001g0236a0006c0018t0002g0222a0012c0009t0001g0008 | 3 | 254 | 0.0118 | -627 | c.38- others(15): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| KANK1_chr9_499695_751103 | 707583 | GTTTCAGA others(620): Show |
G | intron_variant | MODIFIER | HG01943.hp2 HG02257.hp2 HG02280.hp1 others(6): Show |
a0004a0005a0011others(1): Show | a0004c0011a0004c0020a0005c0004others(3): Show | a0004c0011t0001a0004c0020t0001a0004c0020t0007others(4): Show | a0004c0011t0001g0076a0004c0011t0001g0216a0004c0020t0001g0070others(6): Show | 9 | 254 | 0.0354 | -627 | c.38- others(15): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MVB12B_chr9_126321829_126512040 | 126484705 | ACCTTCCA others(620): Show |
A | intron_variant | MODIFIER | HG00323.hp1 NA20805.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0007 | a0001c0003t0001g0095a0001c0003t0007g0208 | 2 | 318 | 0.0063 | -627 | c.873 others(16): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MVB12B_chr9_126321829_126512040 | 126484735 | ACCTTCCA others(620): Show |
A | intron_variant | MODIFIER | HG03017.hp1 HG03710.hp2 HG03831.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0013a0001c0001t0020others(3): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(9): Show | 12 | 318 | 0.0377 | -627 | c.873 others(16): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| NXN_chr17_794310_984776 | 941037 | GCAGCCAT others(620): Show |
G | intron_variant | MODIFIER | HG02027.hp2 NA18952.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0023 | a0001c0001t0002g0169a0001c0001t0023g0052 | 2 | 242 | 0.0083 | -627 | c.360 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| RAD21L1_chr20_1221044_1260876 | 1258528 | AGATCTTC others(620): Show |
A | downstream_gene_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0085 | 1 | 364 | 0.0028 | -627 | c.*40 others(11): Show |
RAD21L1 | ENSG00000244588.6 | transcript | ENST00000683101.1 | protein_coding | 2653 | chr20 | TogoVar | ||||||
| RTEL1_chr20_63653312_63701245 | 63669815 | GCCAAGAT others(620): Show |
G | intron_variant | MODIFIER | HG02886.hp1 HG03516.hp2 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0051a0003c0005t0001g0060 | 2 | 60 | 0.0333 | -627 | c.699 others(17): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| TMEM184B_chr22_38214291_38278010 | 38229609 | AGCTGGAT others(620): Show |
A | intron_variant | MODIFIER | HG00438.hp1 NA18944.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0292a0001c0001t0004g0297 | 2 | 354 | 0.0057 | -627 | c.525 others(16): Show |
TMEM184B | ENSG00000198792.13 | transcript | ENST00000361906.8 | protein_coding | 5/8 | chr22 | TogoVar | ||||||
| TUBGCP2_chr10_133273635_133313872 | 133291748 | TCCGTGTC others(620): Show |
T | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0064 | 1 | 284 | 0.0035 | -627 | c.121 others(17): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1238689 | GCCTCCCG others(619): Show |
G | intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0066 | 1 | 106 | 0.0094 | -626 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| CHID1_chr11_862859_915810 | 896082 | GCAGCCTC others(619): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02451.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0007a0001c0001t0001g0104a0001c0001t0001g0105others(4): Show | 9 | 386 | 0.0233 | -626 | c.608 others(17): Show |
CHID1 | ENSG00000177830.18 | transcript | ENST00000323578.13 | protein_coding | 7/12 | chr11 | TogoVar | ||||||
| DSC2_chr18_31053840_31107421 | 31097306 | ATCATTTT others(619): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02970.hp2 |
a0004a0005 | a0004c0005a0005c0006 | a0004c0005t0079a0004c0005t0081a0005c0006t0082 | a0004c0005t0079g0305a0004c0005t0081g0304a0005c0006t0082g0306 | 3 | 380 | 0.0079 | -626 | c.69+ others(15): Show |
DSC2 | ENSG00000134755.18 | transcript | ENST00000280904.11 | protein_coding | 1/15 | chr18 | TogoVar | ||||||
| GINS3_chr16_58387471_58411147 | 58396054 | ACCTCCCG others(619): Show |
A | intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 434 | 0.0023 | -626 | c.186 others(17): Show |
GINS3 | ENSG00000181938.14 | transcript | ENST00000318129.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| IL3RA_chrX_1331785_1387689 | 1353297 | CTATCATG others(619): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0100a0001c0001t0007g0097 | 2 | 115 | 0.0174 | -626 | c.616 others(16): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| LMF1_chr16_848634_975984 | 953177 | ACACCCCA others(619): Show |
A | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 294 | 0.0034 | -626 | c.503 others(16): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| LRRC27_chr10_132327193_132386508 | 132352058 | GTGTGGGG others(619): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp1 HG01106.hp1 others(56): Show |
a0001a0006a0007 | a0001c0001a0006c0015a0007c0014 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(13): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(56): Show | 59 | 290 | 0.2035 | -626 | c.107 others(17): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 744682 | CGAGCAGG others(619): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0002 | a0002c0002t0053 | a0002c0002t0053g0059 | 1 | 366 | 0.0027 | -626 | c.462 others(14): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 744784 | GCCGTGGA others(619): Show |
G | intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 366 | 0.0027 | -626 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 746945 | CTCGCCGT others(619): Show |
C | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0022 | 1 | 366 | 0.0027 | -626 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| TUBGCP2_chr10_133273635_133313872 | 133291836 | ATGTCCCT others(619): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0025 | 1 | 284 | 0.0035 | -626 | c.121 others(16): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| TUBGCP2_chr10_133273635_133313872 | 133291853 | TGTGTCCC others(619): Show |
T | intron_variant | MODIFIER | NA18952.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139a0001c0001t0001g0172 | 2 | 284 | 0.0070 | -626 | c.121 others(16): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| ANKRD11_chr16_89262630_89495561 | 89306103 | GCCACCTC others(618): Show |
G | intron_variant | MODIFIER | HG00673.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0029 | 1 | 310 | 0.0032 | -625 | c.88- others(14): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 3/12 | chr16 | TogoVar |