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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCL17_chr16_57399767_57421063 | 57403423 | ATAATATA others(189): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00673.hp2 others(26): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(6): Show | 29 | 388 | 0.0747 | -196 | c.-14 others(11): Show |
CCL17 | ENSG00000102970.11 | transcript | ENST00000219244.9 | protein_coding | 1343 | chr16 | TogoVar | ||||||
CDRT4_chr17_15431015_15472621 | 15465100 | CACACACC others(189): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(145): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(9): Show | a0001c0001t0001g0014a0001c0001t0001g0074a0001c0001t0001g0155others(104): Show | 148 | 430 | 0.3442 | -196 | c.-13 others(19): Show |
CDRT4 | ENSG00000239704.12 | transcript | ENST00000619038.5 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103112729 | TATATATA others(189): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01175.hp1 HG02647.hp2 others(2): Show |
a0001a0007 | a0001c0007a0007c0010 | a0001c0007t0001a0007c0010t0001 | a0001c0007t0001g0099a0007c0010t0001g0009a0007c0010t0001g0306others(1): Show | 5 | 320 | 0.0156 | -196 | c.754 others(19): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 46/48 | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80535327 | TAGAACTG others(189): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(55): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0009others(55): Show | 58 | 96 | 0.6042 | -196 | c.243 others(19): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CHD5_chr1_6096787_6185321 | 6160064 | ACAGCCAG others(189): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(53): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(29): Show | a0001c0001t0003g0079a0001c0001t0003g0097a0001c0001t0003g0114others(53): Show | 56 | 320 | 0.1750 | -196 | c.208 others(15): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 2/41 | chr1 | TogoVar | ||||||
CLEC3A_chr16_78017548_78037101 | 78034351 | GCTCCCCA others(189): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(92): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0001g0088a0001c0001t0005g0015a0001c0001t0005g0016others(19): Show | 95 | 448 | 0.2121 | -196 | c.*35 others(11): Show |
CLEC3A | ENSG00000166509.12 | transcript | ENST00000299642.10 | protein_coding | 2251 | chr16 | TogoVar | ||||||
CNIH4_chr1_224351879_224384452 | 224378516 | ACTGAGGC others(189): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0014a0001c0001t0009g0080 | 6 | 324 | 0.0185 | -196 | c.*28 others(11): Show |
CNIH4 | ENSG00000143771.12 | transcript | ENST00000465271.6 | protein_coding | 5/5 | 2898 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
CNKSR3_chr6_154382515_154515685 | 154486454 | GCCCAGCT others(189): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02451.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0132a0001c0001t0194a0001c0001t0196others(13): Show | a0001c0001t0132g0134a0001c0001t0194g0342a0001c0001t0196g0341others(14): Show | 17 | 342 | 0.0497 | -196 | c.52+ others(17): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
CNOT6_chr5_180489379_180583358 | 180534612 | GGGGGTCC others(189): Show |
G | intron_variant | MODIFIER | NA18978.hp2 NA19005.hp1 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246a0001c0001t0001g0275a0001c0001t0001g0315 | 3 | 334 | 0.0090 | -196 | c.112 others(17): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CPSF2_chr14_92116969_92177145 | 92173371 | GTATATAT others(189): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0246 | 1 | 388 | 0.0026 | -196 | c.*11 others(13): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 1227 | chr14 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79745671 | CGTTCTGT others(189): Show |
C | intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0199 | 1 | 378 | 0.0027 | -196 | c.274 others(19): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CYP4F12_chr19_15668087_15702174 | 15673931 | CCACTCAC others(189): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0195 | 1 | 410 | 0.0024 | -196 | c.198 others(15): Show |
CYP4F12 | ENSG00000186204.15 | transcript | ENST00000550308.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
DCAKD_chr17_45018344_45056632 | 45051848 | CGGGCGGG others(189): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00735.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0009a0001c0001t0030others(6): Show | a0001c0001t0003g0242a0001c0001t0009g0251a0001c0001t0030g0246others(8): Show | 12 | 408 | 0.0294 | -196 | c.-79 others(9): Show |
DCAKD | ENSG00000172992.13 | transcript | ENST00000651974.1 | protein_coding | 217 | chr17 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 322190 | CGCTGTTA others(189): Show |
C | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0088 | 1 | 88 | 0.0114 | -196 | c.392 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1015723 | GTGACCAG others(189): Show |
G | intron_variant | MODIFIER | HG01496.hp2 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0037 | 1 | 40 | 0.0250 | -196 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1103430 | TTTGGTTA others(189): Show |
T | intron_variant | MODIFIER | HG03516.hp1 NA20300.hp1 |
a0001 | a0001c0003a0001c0011 | a0001c0003t0013a0001c0011t0015 | a0001c0003t0013g0007a0001c0011t0015g0002 | 2 | 40 | 0.0500 | -196 | c.74- others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DNAI2_chr17_74269234_74319884 | 74301874 | GGAAGGAA others(189): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG01261.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0001g0085a0001c0002t0001g0121a0001c0002t0002g0314others(14): Show | 17 | 398 | 0.0427 | -196 | c.987 others(15): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNASE1L1_chrX_154396236_154414254 | 154402438 | CCCTACCC others(189): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01081.hp1 HG02559.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0036a0001c0001t0006g0121a0001c0001t0006g0127others(1): Show | 5 | 279 | 0.0179 | -196 | c.*73 others(8): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 8/8 | 73 | chrX | TogoVar | |||||
DOC2B_chr17_137789_186650 | 171663 | CAGCACCA others(189): Show |
C | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0269 | 1 | 339 | 0.0030 | -196 | c.453 others(15): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
ERMARD_chr6_169746622_169786600 | 169782137 | ACCCTTTC others(189): Show |
A | downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 379 | 0.0026 | -196 | c.*62 others(9): Show |
ERMARD | ENSG00000130023.16 | transcript | ENST00000366773.8 | protein_coding | 538 | chr6 | TogoVar | ||||||
ERMARD_chr6_169746622_169786600 | 169782644 | GGTGTGAG others(189): Show |
G | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02976.hp2 HG03209.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0035a0002c0003t0001g0045 | 4 | 379 | 0.0106 | -196 | c.*11 others(11): Show |
ERMARD | ENSG00000130023.16 | transcript | ENST00000366773.8 | protein_coding | 1045 | chr6 | TogoVar | ||||||
FAM47E_chr4_76246721_76288783 | 76262943 | TTAAATAG others(189): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0104 | 1 | 392 | 0.0026 | -196 | c.421 others(15): Show |
FAM47E | ENSG00000189157.14 | transcript | ENST00000424749.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
FCHO2_chr5_72951041_73095522 | 73016311 | TGTTTAAA others(189): Show |
T | intron_variant | MODIFIER | NA18984.hp2 NA19010.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0244a0001c0004t0003g0250 | 2 | 286 | 0.0070 | -196 | c.699 others(15): Show |
FCHO2 | ENSG00000157107.14 | transcript | ENST00000430046.7 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GABRR2_chr6_89249464_89320299 | 89292357 | TATATATA others(189): Show |
T | intron_variant | MODIFIER | NA19086.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0156 | 1 | 366 | 0.0027 | -196 | c.220 others(17): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807222 | TCCCCCCT others(189): Show |
T | downstream_gene_variant | MODIFIER | HG02135.hp2 NA18999.hp2 NA19030.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0030a0001c0001t0001g0207a0002c0002t0001g0133 | 3 | 314 | 0.0096 | -196 | c.*30 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2936 | chr2 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71680183 | CCGCTCTC others(189): Show |
C | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0067 | 1 | 76 | 0.0132 | -196 | c.150 others(19): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GNG12_chr1_67696475_67838467 | 67710024 | TTATATAT others(189): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0269a0001c0001t0019g0270 | 2 | 274 | 0.0073 | -196 | c.-26 others(17): Show |
GNG12 | ENSG00000172380.6 | transcript | ENST00000370982.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 92347875 | ATATATAT others(189): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0016 | 1 | 42 | 0.0238 | -196 | c.156 others(23): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46631389 | ACTCCTGG others(189): Show |
A | intron_variant | MODIFIER | HG02723.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0183a0001c0001t0011g0184 | 2 | 328 | 0.0061 | -196 | c.162 others(17): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GRAMD4_chr22_46615386_46684785 | 46631422 | AGCCTGTG others(189): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0011 | a0002c0011t0053 | a0002c0011t0053g0019 | 1 | 328 | 0.0031 | -196 | c.162 others(17): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HACL1_chr3_15555699_15606569 | 15592829 | CATGTGTG others(189): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp2 HG01891.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0212others(4): Show | 7 | 428 | 0.0164 | -196 | c.228 others(17): Show |
HACL1 | ENSG00000131373.15 | transcript | ENST00000321169.10 | protein_coding | 3/16 | chr3 | TogoVar | ||||||
HDAC4_chr2_239043168_239406020 | 239068848 | ACACTTGC others(189): Show |
A | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0178 | 1 | 242 | 0.0041 | -196 | c.275 others(17): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 22/26 | chr2 | TogoVar | ||||||
HDAC4_chr2_239043168_239406020 | 239069191 | GCACTTGC others(189): Show |
G | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 242 | 0.0041 | -196 | c.275 others(17): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 22/26 | chr2 | TogoVar | ||||||
HDAC4_chr2_239043168_239406020 | 239069209 | GGAGTCAC others(189): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0015 | a0001c0015t0074 | a0001c0015t0074g0028 | 1 | 242 | 0.0041 | -196 | c.275 others(17): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 22/26 | chr2 | TogoVar | ||||||
HDAC4_chr2_239043168_239406020 | 239069485 | ACACTTGC others(189): Show |
A | intron_variant | MODIFIER | HG03139.hp1 HG03195.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0004a0001c0007t0003 | a0001c0003t0004g0042a0001c0007t0003g0044 | 2 | 242 | 0.0083 | -196 | c.275 others(18): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 22/26 | chr2 | TogoVar | ||||||
HSPBAP1_chr3_122734999_122798831 | 122780135 | AGCTGACC others(189): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0014 | 2 | 350 | 0.0057 | -196 | c.65- others(15): Show |
HSPBAP1 | ENSG00000169087.11 | transcript | ENST00000306103.3 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76699599 | CTCTGTTT others(189): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG01934.hp1 others(9): Show |
a0001a0002a0008others(1): Show | a0001c0002a0001c0003a0002c0001others(3): Show | a0001c0002t0002a0001c0003t0002a0002c0001t0002others(4): Show | a0001c0002t0002g0111a0001c0002t0002g0117a0001c0003t0002g0082others(9): Show | 12 | 222 | 0.0541 | -196 | c.436 others(19): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 33/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IQGAP2_chr5_76398285_76713132 | 76699719 | TTCTCTCT others(189): Show |
T | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0071 | 1 | 222 | 0.0045 | -196 | c.436 others(19): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 33/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
LCN1_chr9_135516440_135531540 | 135527988 | TAGACCTT others(189): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01192.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 6 | 436 | 0.0138 | -196 | c.*16 others(11): Show |
LCN1 | ENSG00000160349.10 | transcript | ENST00000371781.4 | protein_coding | 1449 | chr9 | TogoVar | ||||||
LYRM4_chr6_5103419_5265950 | 5135057 | GCTCCCGG others(189): Show |
G | intron_variant | MODIFIER | HG03669.hp1 NA18944.hp2 NA18946.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0032a0001c0001t0001g0136a0001c0001t0001g0137others(1): Show | 4 | 286 | 0.0140 | -196 | c.208 others(19): Show |
LYRM4 | ENSG00000214113.11 | transcript | ENST00000330636.9 | protein_coding | 2/2 | chr6 | TogoVar | ||||||
MAN1A1_chr6_119172205_119354761 | 119275179 | TGGCTCAC others(189): Show |
T | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG02602.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0031 | a0001c0001t0002g0122a0001c0001t0002g0123a0001c0001t0002g0124others(4): Show | 7 | 350 | 0.0200 | -196 | c.897 others(19): Show |
MAN1A1 | ENSG00000111885.7 | transcript | ENST00000368468.4 | protein_coding | 5/12 | chr6 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19452155 | GAAGAGAA others(189): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0130 | 1 | 163 | 0.0061 | -196 | c.995 others(17): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 6/28 | chrX | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175698131 | ATATGTGT others(189): Show |
A | intron_variant | MODIFIER | HG03225.hp2 NA19043.hp2 |
a0005 | a0005c0006a0005c0011 | a0005c0006t0001a0005c0011t0004 | a0005c0006t0001g0057a0005c0011t0004g0029 | 2 | 64 | 0.0313 | -196 | c.189 others(21): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NEU4_chr2_241804193_241822413 | 241807222 | TCCCCCCT others(189): Show |
T | upstream_gene_variant | MODIFIER | HG01358.hp1 HG02083.hp1 |
a0001a0010 | a0001c0001a0010c0012 | a0001c0001t0003a0010c0012t0001 | a0001c0001t0003g0010a0010c0012t0001g0135 | 2 | 319 | 0.0063 | -196 | c.-20 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1970 | chr2 | TogoVar | ||||||
NOL10_chr2_10565754_10694975 | 10587064 | TATACATA others(189): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0266 | 1 | 372 | 0.0027 | -196 | c.184 others(19): Show |
NOL10 | ENSG00000115761.17 | transcript | ENST00000381685.10 | protein_coding | 19/20 | chr2 | TogoVar | ||||||
ODF2_chr9_128451006_128506292 | 128464665 | GTTTTTGT others(189): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(339): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0007others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0031others(335): Show | 342 | 346 | 0.9884 | -196 | c.498 others(17): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OTUD7A_chr15_31470398_31875673 | 31510540 | TGTATATC others(189): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG01981.hp1 HG02280.hp2 |
a0001a0003 | a0001c0002a0003c0010 | a0001c0002t0021a0003c0010t0076 | a0001c0002t0021g0200a0001c0002t0021g0202a0003c0010t0076g0105 | 3 | 244 | 0.0123 | -196 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 731554 | CCCCCTCC others(189): Show |
C | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0018 | 1 | 366 | 0.0027 | -196 | c.-10 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PIGN_chr18_62036164_62192056 | 62039763 | CCATGTTT others(189): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG02683.hp1 others(9): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0060a0004c0007t0059a0004c0007t0060others(7): Show | a0001c0001t0060g0338a0004c0007t0059g0318a0004c0007t0059g0319others(9): Show | 12 | 342 | 0.0351 | -196 | c.*58 others(11): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 1400 | chr18 | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 297357 | CCATTATT others(189): Show |
C | intron_variant | MODIFIER | HG01168.hp2 NA19060.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0074a0001c0003t0060 | a0001c0001t0074g0143a0001c0003t0060g0051 | 2 | 176 | 0.0114 | -196 | c.734 others(17): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar |