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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EIPR1_chr2_3183970_3382818 | 3315984 | G | GCCCCTAC others(2259): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 250 | 0.0040 | 2266 | c.259 others(2285): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2259): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0201 | 1 | 292 | 0.0034 | 2266 | c.228 others(2283): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2259): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0206 | 1 | 292 | 0.0034 | 2266 | c.228 others(2283): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2259): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 | a0067 | a0067c0104 | a0067c0104t0005 | a0067c0104t0005g0264 | 1 | 369 | 0.0027 | 2266 | c.-50 others(2277): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2259): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0004 | a0004c0090 | a0004c0090t0011 | a0004c0090t0011g0261 | 1 | 369 | 0.0027 | 2266 | c.-50 others(2277): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71680483 | C | CCTTCCTC others(2259): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0027a0001c0003t0002g0069 | 2 | 76 | 0.0263 | 2266 | c.150 others(2285): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(2259): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 326 | 0.0031 | 2266 | c.433 others(2283): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(2259): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 367 | 0.0027 | 2266 | c.4-1 others(2279): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2259): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0045 | 1 | 216 | 0.0046 | 2266 | c.801 others(2283): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2259): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02132.hp1 NA18949.hp1 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(3): Show | a0001c0001t0003g0247a0001c0001t0003g0296a0001c0001t0004g0250others(4): Show | 7 | 358 | 0.0196 | 2266 | c.257 others(2283): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2259): Show |
intron_variant | MODIFIER | NA18993.hp1 NA19070.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002 | a0001c0001t0004g0262a0002c0002t0002g0036 | 2 | 358 | 0.0056 | 2266 | c.257 others(2283): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2259): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0331 | 1 | 358 | 0.0028 | 2266 | c.257 others(2283): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2259): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18939.hp2 NA18970.hp1 others(4): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0007 | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(3): Show | a0001c0001t0003g0248a0001c0001t0004g0333a0001c0001t0012g0334others(4): Show | 7 | 358 | 0.0196 | 2266 | c.257 others(2283): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
C1QTNF9_chr13_24304580_24327531 | 24314869 | T | TGAAAATG others(2260): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01361.hp1 HG02683.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122a0001c0001t0001g0124a0001c0001t0001g0126others(1): Show | 4 | 466 | 0.0086 | 2267 | c.-22 others(2284): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(2260): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01175.hp1 HG01496.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0069a0001c0001t0001g0137others(3): Show | 6 | 170 | 0.0353 | 2267 | c.642 others(2284): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FAM240C_chr2_241888988_241905464 | 241896835 | T | TGGGGGGT others(2260): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 37 | 0.0270 | 2267 | c.161 others(2282): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(2260): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0093 | 1 | 168 | 0.0060 | 2267 | c.206 others(2288): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LUC7L_chr16_183990_234449 | 186697 | G | GGAGGAAC others(2260): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 350 | 0.0029 | 2267 | c.*25 others(2278): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2292 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2260): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0054 | a0054c0054 | a0054c0054t0005 | a0054c0054t0005g0195 | 1 | 216 | 0.0046 | 2267 | c.801 others(2284): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2260): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0121 | 1 | 358 | 0.0028 | 2267 | c.257 others(2284): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2260): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0299 | 1 | 358 | 0.0028 | 2267 | c.257 others(2284): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2260): Show |
intron_variant | MODIFIER | HG02056.hp2 NA18980.hp2 NA18993.hp2 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0007 | a0002c0002t0001g0080a0002c0002t0001g0093a0004c0004t0007g0354 | 3 | 358 | 0.0084 | 2267 | c.257 others(2284): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AAAGGGAA others(2261): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0084 | 1 | 326 | 0.0031 | 2268 | c.327 others(2285): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
C1QTNF9_chr13_24304580_24327531 | 24314869 | T | TGAAAATG others(2261): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 466 | 0.0022 | 2268 | c.-22 others(2285): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
C1QTNF9_chr13_24304580_24327531 | 24314869 | T | TGAAAATG others(2261): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01192.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123a0001c0001t0001g0127 | 2 | 466 | 0.0043 | 2268 | c.-22 others(2285): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2261): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0028 | 1 | 298 | 0.0034 | 2268 | c.126 others(2285): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(2261): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 170 | 0.0059 | 2268 | c.642 others(2285): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ENTPD2_chr9_137043107_137059061 | 137050064 | T | TCACGACA others(2261): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02723.hp2 HG02965.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0045a0001c0006t0001g0136 | 3 | 400 | 0.0075 | 2268 | c.103 others(2283): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
ENTPD2_chr9_137043107_137059061 | 137050064 | T | TCACGACA others(2261): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0135 | 1 | 400 | 0.0025 | 2268 | c.103 others(2283): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 659547 | T | TGTGCACT others(2261): Show |
downstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0289 | 1 | 378 | 0.0027 | 2268 | c.*50 others(2279): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4652 | chr8 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71679943 | T | TCCTCCTC others(2261): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0046 | 1 | 76 | 0.0132 | 2268 | c.150 others(2287): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399335 | C | CACCACCA others(2261): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0299 | 1 | 314 | 0.0032 | 2268 | c.-25 others(2285): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MICAL3_chr22_17782649_18029561 | 17877387 | T | TGGAGGTT others(2261): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0012 | a0002c0012t0004 | a0002c0012t0004g0070 | 1 | 274 | 0.0037 | 2268 | c.224 others(2287): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150717 | C | CACCACAC others(2261): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 294 | 0.0034 | 2268 | c.902 others(2283): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NPDC1_chr9_137034463_137051177 | 137050064 | T | TCACGACA others(2261): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0039a0001c0001t0001g0075 | 5 | 402 | 0.0124 | 2268 | c.-40 others(2279): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3888 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050064 | T | TCACGACA others(2261): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 402 | 0.0025 | 2268 | c.-40 others(2279): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3888 | chr9 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2261): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02886.hp2 |
a0002a0003 | a0002c0005a0003c0008 | a0002c0005t0001a0003c0008t0001 | a0002c0005t0001g0041a0003c0008t0001g0030 | 2 | 272 | 0.0074 | 2268 | c.-12 others(2289): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
RAB40B_chr17_82649973_82703698 | 82672045 | C | CCACCCCT others(2261): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG01106.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(1): Show | a0001c0001t0001g0147a0001c0001t0001g0191a0001c0001t0001g0246others(5): Show | 8 | 338 | 0.0237 | 2268 | c.143 others(2285): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744785 | T | TAGCACAG others(2261): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0092 | a0001c0001t0092g0029 | 1 | 196 | 0.0051 | 2268 | c.655 others(2285): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2261): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0026 | 1 | 358 | 0.0028 | 2268 | c.257 others(2285): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2261): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0297 | 1 | 358 | 0.0028 | 2268 | c.257 others(2285): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432012 | T | TAGGGTGG others(2261): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0180 | 1 | 376 | 0.0027 | 2268 | c.101 others(2285): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TOPAZ1_chr3_44236886_44337098 | 44259250 | G | GTTCTGCC others(2261): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0012 | a0012c0018 | a0012c0018t0001 | a0012c0018t0001g0076 | 1 | 258 | 0.0039 | 2268 | c.295 others(2287): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
VCX2_chrX_8164944_8176267 | 8169109 | C | CCTCCCCA others(2261): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0017 | a0017c0016 | a0017c0016t0008 | a0017c0016t0008g0020 | 1 | 115 | 0.0087 | 2268 | c.*92 others(2277): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 834 | chrX | TogoVar | ||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(2262): Show |
downstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 395 | 0.0025 | 2269 | c.*69 others(2280): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | ||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(2262): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 395 | 0.0025 | 2269 | c.*69 others(2280): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | ||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(2262): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 NA18982.hp1 |
a0001a0011 | a0001c0001a0011c0015 | a0001c0001t0001a0011c0015t0002 | a0001c0001t0001g0159a0011c0015t0002g0211 | 2 | 395 | 0.0051 | 2269 | c.*69 others(2280): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | ||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(2262): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01175.hp1 HG01255.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0011 | a0001c0001t0002g0025a0001c0001t0002g0042a0001c0001t0002g0105others(8): Show | 12 | 395 | 0.0304 | 2269 | c.*69 others(2280): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | ||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(2262): Show |
downstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 395 | 0.0025 | 2269 | c.*69 others(2280): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | ||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(2262): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 395 | 0.0025 | 2269 | c.*69 others(2280): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar |