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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGAP39_chr8_144524179_144690846 | 144531191 | A | AGAGCAGC others(1148): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 246 | 0.0041 | 1155 | c.298 others(1172): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(1148): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 298 | 0.0034 | 1155 | c.955 others(1172): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(1148): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0025 | 1 | 391 | 0.0026 | 1155 | c.*36 others(1166): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939808 | A | AAAAGAAA others(1148): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 258 | 0.0039 | 1155 | c.403 others(1170): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1148): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0176 | 1 | 258 | 0.0039 | 1155 | c.403 others(1170): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132914127 | C | CCCCGAGG others(1148): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0057 | a0057c0088 | a0057c0088t0002 | a0057c0088t0002g0042 | 1 | 246 | 0.0041 | 1155 | c.212 others(1172): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | AATATATG others(1148): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0084 | 1 | 236 | 0.0042 | 1155 | c.342 others(1176): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GGAAGGGG others(1148): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0004 | a0004c0061 | a0004c0061t0003 | a0004c0061t0003g0131 | 1 | 344 | 0.0029 | 1155 | c.85- others(1172): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14212238 | T | TATTTACT others(1148): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0009 | 1 | 148 | 0.0068 | 1155 | c.212 others(1176): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(1148): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01099.hp2 HG01167.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0216a0003c0003t0001g0218a0003c0003t0001g0223 | 3 | 358 | 0.0084 | 1155 | c.236 others(1174): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(1148): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0226 | 1 | 358 | 0.0028 | 1155 | c.236 others(1174): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99927978 | G | GTGGTGGT others(1148): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0135 | 1 | 288 | 0.0035 | 1155 | c.190 others(1174): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GET4_chr7_871554_901436 | 890098 | C | CGGGGTCT others(1148): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0143 | 1 | 384 | 0.0026 | 1155 | c.467 others(1170): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399225 | A | ACCACCGC others(1148): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 314 | 0.0032 | 1155 | c.-25 others(1172): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ICA1_chr7_8108184_8267167 | 8152669 | C | CATTATCT others(1148): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0153 | 1 | 274 | 0.0037 | 1155 | c.804 others(1172): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(1148): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0103 | 1 | 312 | 0.0032 | 1155 | c.-41 others(1170): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LGR6_chr1_202188799_202324761 | 202205230 | C | CACACACA others(1148): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 262 | 0.0038 | 1155 | c.212 others(1174): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(1148): Show |
upstream_gene_variant | MODIFIER | NA18954.hp2 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 398 | 0.0050 | 1155 | c.-42 others(1166): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364373 | C | CCACGCTT others(1148): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0116 | 1 | 290 | 0.0035 | 1155 | c.129 others(1174): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MCCC1_chr3_183010218_183104496 | 183018248 | C | CACTGGTC others(1148): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215a0001c0001t0001g0216 | 2 | 344 | 0.0058 | 1155 | c.197 others(1172): Show |
MCCC1 | ENSG00000078070.14 | transcript | ENST00000265594.9 | protein_coding | 17/18 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195775980 | C | CCATACCT others(1148): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0038 | a0038c0163 | a0038c0163t0002 | a0038c0163t0002g0005 | 1 | 249 | 0.0040 | 1155 | c.129 others(1176): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195775980 | C | CCATACCT others(1148): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0028 | a0028c0137 | a0028c0137t0002 | a0028c0137t0002g0024 | 1 | 249 | 0.0040 | 1155 | c.129 others(1176): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841624 | G | GGGCGAGC others(1148): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057a0001c0001t0003g0061 | 2 | 242 | 0.0083 | 1155 | c.361 others(1174): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PNPLA3_chr22_43918805_43952582 | 43928709 | G | GTGCAAAG others(1148): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0194 | 1 | 420 | 0.0024 | 1155 | c.421 others(1168): Show |
PNPLA3 | ENSG00000100344.11 | transcript | ENST00000216180.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPP2R3B_chrX_328933_391907 | 365602 | G | GGAGGCTG others(1148): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 25 | 0.0400 | 1155 | c.325 others(1172): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 1/12 | chrX | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1148): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 304 | 0.0033 | 1155 | c.347 others(1170): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
RPEL1_chr10_103240887_103253016 | 103251202 | A | AACACCAC others(1148): Show |
downstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 1 | 375 | 0.0027 | 1155 | c.*45 others(1166): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3187 | chr10 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495152 | C | CTATAGTA others(1148): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 322 | 0.0031 | 1155 | c.-93 others(1172): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SEL1L2_chr20_13844247_13995614 | 13934446 | C | CATATATA others(1148): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 324 | 0.0031 | 1155 | c.115 others(1172): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GGAGAAGG others(1148): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0174 | 1 | 214 | 0.0047 | 1155 | c.206 others(1174): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
TM4SF1_chr3_149364022_149382649 | 149380309 | C | CCCTCTGC others(1148): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 434 | 0.0023 | 1155 | c.-27 others(1166): Show |
TM4SF1 | ENSG00000169908.12 | transcript | ENST00000305366.8 | protein_coding | 2661 | chr3 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115618 | A | AGCGAAGG others(1148): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0344 | 1 | 444 | 0.0023 | 1155 | c.227 others(1174): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115828 | G | GGCGAAGG others(1148): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0380 | 1 | 444 | 0.0023 | 1155 | c.227 others(1174): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1148): Show |
downstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 1155 | c.*24 others(1166): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1148): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG02015.hp2 HG02165.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 3 | 360 | 0.0083 | 1155 | c.*24 others(1166): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(1149): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02602.hp1 |
a0001a0002 | a0001c0001a0002c0015 | a0001c0001t0001a0002c0015t0001 | a0001c0001t0001g0084a0002c0015t0001g0025 | 2 | 248 | 0.0081 | 1156 | c.387 others(1175): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ACSF3_chr16_89088852_89161233 | 89137311 | C | CGGGGAAG others(1149): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0022 | 1 | 368 | 0.0027 | 1156 | c.136 others(1175): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ADCY8_chr8_130775301_131045909 | 130897690 | T | TACACACC others(1149): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01243.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0005a0001c0004t0013 | a0001c0004t0003g0213a0001c0004t0005g0002a0001c0004t0013g0240 | 4 | 246 | 0.0163 | 1156 | c.191 others(1175): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130897690 | T | TACACACC others(1149): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0003a0001c0006a0001c0015 | a0001c0003t0001a0001c0003t0008a0001c0006t0002others(1): Show | a0001c0003t0001g0123a0001c0003t0008g0004a0001c0006t0002g0142others(2): Show | 5 | 246 | 0.0203 | 1156 | c.191 others(1175): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 415365 | C | CCCTGGTC others(1149): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0003 | a0003c0004 | a0003c0004t0028 | a0003c0004t0028g0006 | 1 | 268 | 0.0037 | 1156 | c.441 others(1173): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 415614 | C | CGGGAGGC others(1149): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0200 | 1 | 268 | 0.0037 | 1156 | c.441 others(1173): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1149): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0199 | 1 | 298 | 0.0034 | 1156 | c.955 others(1173): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CA10_chr17_51625320_52163714 | 51821031 | C | CCCTCCCT others(1149): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009a0001c0001t0002g0052 | 2 | 156 | 0.0128 | 1156 | c.280 others(1175): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136802875 | T | TGGGGGCC others(1149): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0118 | 1 | 398 | 0.0025 | 1156 | c.666 others(1171): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136802884 | C | CCCAAGGC others(1149): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0089 | 1 | 398 | 0.0025 | 1156 | c.666 others(1171): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DGKB_chr7_14140049_14907751 | 14471369 | A | ACATACAT others(1149): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0006 | a0001c0006t0019 | a0001c0006t0019g0144 | 1 | 148 | 0.0068 | 1156 | c.183 others(1175): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706333 | G | GATAGATA others(1149): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0258 | 1 | 292 | 0.0034 | 1156 | c.228 others(1173): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706333 | G | GATAGATA others(1149): Show |
upstream_gene_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0027a0003c0001t0002g0028 | 2 | 369 | 0.0054 | 1156 | c.-50 others(1167): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4867 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706333 | G | GATAGATA others(1149): Show |
upstream_gene_variant | MODIFIER | NA18943.hp2 NA18949.hp1 NA18993.hp2 others(1): Show |
a0001a0003 | a0001c0002a0001c0004a0003c0001 | a0001c0002t0002a0001c0004t0001a0003c0001t0002 | a0001c0002t0002g0060a0001c0004t0001g0064a0003c0001t0002g0016others(1): Show | 4 | 369 | 0.0108 | 1156 | c.-50 others(1167): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4867 | chr4 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355478 | A | AGGAGGAA others(1149): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 82 | 0.0122 | 1156 | c.758 others(1171): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar |