| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| VCX2_chrX_8164944_8176267 | 8169657 | T | TCCTCCCT others(587): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0004 | 1 | 69 | 0.0145 | 594 | c.*37 others(603): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 286 | chrX | TogoVar | |||||||
| ZNF365_chr10_62369369_62407450 | 62370987 | C | CACATATA others(587): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 285 | 0.0035 | 594 | c.-34 others(605): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3381 | chr10 | TogoVar | |||||||
| ZZEF1_chr17_3999445_4148030 | 4089919 | A | ACTATTCT others(587): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0039 | a0002c0039t0003 | a0002c0039t0003g0033 | 1 | 293 | 0.0034 | 594 | c.202 others(611): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 12/54 | chr17 | TogoVar | |||||||
| ABR_chr17_998519_1184981 | 1062631 | C | GTGAGGGC others(588): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0333 | 1 | 92 | 0.0109 | 595 | c.118 others(614): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
| ABR_chr17_998519_1184981 | 1064029 | G | GTTACGTG others(588): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 102 | 0.0098 | 595 | c.118 others(614): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
| ABR_chr17_998519_1184981 | 1065223 | A | ACTGTTGT others(588): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0204 |
3 | 302 | 0.0099 | 595 | c.118 others(614): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
| ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(588): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0104 | 1 | 25 | 0.0400 | 595 | c.259 others(616): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
| AKT3_chr1_243494724_243855243 | 243525831 | G | GGGGGAGG others(588): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0075 | 1 | 183 | 0.0055 | 595 | c.125 others(616): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
| ARHGAP11B_chr15_30621128_30643810 | 30632166 | A | AATCCCAG others(588): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 2 | 0.5000 | 595 | c.201 others(612): Show |
ARHGAP11B | ENSG00000285077.4 | transcript | ENST00000697964.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| ARHGAP11B_chr15_30621128_30643810 | 30632166 | A | AATCCCAG others(588): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01261.hp1 HG01884.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0042 others(2): Show |
5 | 6 | 0.8333 | 595 | c.201 others(612): Show |
ARHGAP11B | ENSG00000285077.4 | transcript | ENST00000697964.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| ARHGAP11B_chr15_30621128_30643810 | 30632166 | A | AATCCCAG others(588): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0058 | 1 | 2 | 0.5000 | 595 | c.201 others(612): Show |
ARHGAP11B | ENSG00000285077.4 | transcript | ENST00000697964.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| ARHGAP11B_chr15_30621128_30643810 | 30632166 | A | AATCCCAG others(588): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 2 | 0.5000 | 595 | c.201 others(612): Show |
ARHGAP11B | ENSG00000285077.4 | transcript | ENST00000697964.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(588): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0002 | a0002c0021 | a0002c0021t0002 | a0002c0021t0002g0013 | 2 | 51 | 0.0392 | 595 | c.147 others(612): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| BTNL9_chr5_181035266_181066521 | 181045807 | C | CTCCTCCA others(588): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02015.hp1 HG02027.hp1 others(11): Show |
a0001a0005 | a0001c0005a0001c0006a0005c0015 | a0001c0005t0004a0001c0006t0010a0005c0015t0004 | a0001c0005t0004g0004 a0001c0005t0004g0129 a0001c0005t0004g0130 others(4): Show |
14 | 383 | 0.0366 | 595 | c.109 others(610): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| BTNL9_chr5_181035266_181066521 | 181045807 | C | CTCCTCCA others(588): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0135 | 1 | 370 | 0.0027 | 595 | c.109 others(610): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| C1QTNF12_chr1_1237453_1251722 | 1248971 | G | GCGAGGGA others(588): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0027 | 1 | 270 | 0.0037 | 595 | c.-22 others(606): Show |
C1QTNF12 | ENSG00000184163.3 | transcript | ENST00000330388.2 | protein_coding | 2250 | chr1 | TogoVar | |||||||
| C1QTNF12_chr1_1237453_1251722 | 1249541 | C | CACGGGCA others(588): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 | a0009 | a0009c0016 | a0009c0016t0001 | a0009c0016t0001g0101 | 1 | 325 | 0.0031 | 595 | c.-28 others(606): Show |
C1QTNF12 | ENSG00000184163.3 | transcript | ENST00000330388.2 | protein_coding | 2820 | chr1 | TogoVar | |||||||
| C2CD4C_chr19_400445_414147 | 404443 | T | TGGGGGGG others(588): Show |
downstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0020 | 1 | 204 | 0.0049 | 595 | c.*26 others(606): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1001 | chr19 | TogoVar | |||||||
| CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(588): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 151 | 0.0066 | 595 | c.63+ others(608): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
| CAMKK2_chr12_121232692_121301709 | 121255222 | A | ATATATAT others(588): Show |
intron_variant | MODIFIER | HG01346.hp2 NA19083.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0038 a0002c0004t0001g0211 |
2 | 95 | 0.0211 | 595 | c.907 others(610): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
| CAMKK2_chr12_121232692_121301709 | 121255222 | A | ATATATAT others(588): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0258 | 1 | 94 | 0.0106 | 595 | c.907 others(610): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
| CAMKK2_chr12_121232692_121301709 | 121255222 | A | ATATATAT others(588): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 94 | 0.0106 | 595 | c.907 others(610): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
| CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(588): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 4 | 0.2500 | 595 | c.712 others(612): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
| CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(588): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0015 | 2 | 177 | 0.0113 | 595 | c.373 others(612): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(588): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0003 | 1 | 8 | 0.1250 | 595 | c.*69 others(606): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
| COL23A1_chr5_178232618_178595393 | 178585607 | C | CACGTCCC others(588): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02486.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0006g0226 others(1): Show |
4 | 203 | 0.0197 | 595 | c.294 others(612): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
| COL4A1_chr13_110143963_110312157 | 110255806 | A | AGGGGGAA others(588): Show |
intron_variant | MODIFIER | HG01981.hp2 HG01993.hp1 |
a0002 | a0002c0028 | a0002c0028t0003a0002c0028t0004 | a0002c0028t0003g0262 a0002c0028t0004g0328 |
2 | 299 | 0.0067 | 595 | c.85- others(612): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
| COL4A2_chr13_110302284_110518209 | 110481592 | G | GTTGCTGG others(588): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0349 | 1 | 224 | 0.0045 | 595 | c.275 others(612): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| CUL4A_chr13_113204613_113272108 | 113232020 | A | ACCACTAC others(588): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0154 | 1 | 324 | 0.0031 | 595 | c.513 others(612): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15933396 | G | GTGAGCGG others(588): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0001 | a0002c0001t0013 | a0002c0001t0013g0150 | 1 | 384 | 0.0026 | 595 | c.198 others(610): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
| DCLK2_chr4_150073445_150262438 | 150251147 | C | CCCACATC others(588): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0004 | a0004c0005 | a0004c0005t0019 | a0004c0005t0019g0115 | 1 | 81 | 0.0123 | 595 | c.207 others(614): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| DECR2_chr16_396885_417482 | 397726 | C | CGGGGGGT others(588): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 1 | 325 | 0.0031 | 595 | c.-42 others(606): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4158 | chr16 | TogoVar | |||||||
| DHRSX_chrX_2214506_2505976 | 2228046 | G | GAAGGGAG others(588): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0050 | 1 | 45 | 0.0222 | 595 | c.805 others(612): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 6/6 | chrX | TogoVar | |||||||
| EZH2_chr7_148802383_148889291 | 148869593 | C | CGCTCAAA others(588): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 a0001c0001t0001g0286 |
2 | 369 | 0.0054 | 595 | c.-8+ others(612): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
| FBXO34_chr14_55266421_55358611 | 55331803 | T | TATATATA others(588): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00639.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 a0001c0001t0001g0201 a0001c0001t0001g0252 others(9): Show |
12 | 74 | 0.1622 | 595 | c.-10 others(614): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| FMN2_chr1_240086883_240480187 | 240185147 | T | TCCCCTTC others(588): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0029 | a0029c0067 | a0029c0067t0004 | a0029c0067t0004g0069 | 1 | 129 | 0.0078 | 595 | c.193 others(614): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| FOXN3_chr14_89151177_89422233 | 89361864 | A | ACCACCAC others(588): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0141 | 1 | 224 | 0.0045 | 595 | c.544 others(614): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
| FOXP1_chr3_70949708_71588728 | 71435509 | C | CGGAGGGA others(588): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0003 | 1 | 86 | 0.0116 | 595 | c.-16 others(616): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241807979 | C | CCCCCCTC others(588): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 305 | 0.0033 | 595 | c.*38 others(606): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3693 | chr2 | TogoVar | |||||||
| GET4_chr7_871554_901436 | 890098 | C | CGGGGTCT others(588): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0109 | 1 | 258 | 0.0039 | 595 | c.467 others(610): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| GLB1L3_chr11_134271379_134324564 | 134308398 | T | TCACCATC others(588): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0315 | 1 | 315 | 0.0032 | 595 | c.961 others(612): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| GMDS_chr6_1618806_2250605 | 1927217 | A | AGAGGGTA others(588): Show |
intron_variant | MODIFIER | HG02027.hp1 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0076 a0001c0002t0001g0083 |
2 | 15 | 0.1333 | 595 | c.771 others(612): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | |||||||
| GMDS_chr6_1618806_2250605 | 1927217 | A | AGAGGGTA others(588): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00738.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0031 others(22): Show |
25 | 38 | 0.6579 | 595 | c.771 others(612): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | |||||||
| GMDS_chr6_1618806_2250605 | 1927217 | A | AGAGGGTA others(588): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 14 | 0.0714 | 595 | c.771 others(612): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | |||||||
| GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(588): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 2 | 210 | 0.0095 | 595 | c.*50 others(606): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
| GRK4_chr4_2958571_3045760 | 2961219 | T | TAGTAACT others(588): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0240 | 1 | 134 | 0.0075 | 595 | c.-28 others(606): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2351 | chr4 | TogoVar | |||||||
| GTPBP6_chrX_299759_323796 | 322499 | A | AAAAAAAA others(588): Show |
upstream_gene_variant | MODIFIER | HG01943.hp1 HG02273.hp2 NA18952.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0003t0001a0002c0002t0001 | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0003t0001g0029 others(1): Show |
6 | 109 | 0.0550 | 595 | c.-37 others(606): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3704 | chrX | TogoVar | |||||||
| GTPBP6_chrX_299759_323796 | 323700 | G | GTGTGTGT others(588): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0090 | 1 | 152 | 0.0066 | 595 | c.-49 others(606): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4905 | chrX | TogoVar | |||||||
| MLPH_chr2_237482251_237560322 | 237544349 | T | TGGGGGGA others(588): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0043 | 1 | 228 | 0.0044 | 595 | c.153 others(614): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| MSLN_chr16_755734_773862 | 767583 | C | CGTGGAGG others(588): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 385 | 0.0026 | 595 | c.159 others(612): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |