| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SHISA5_chr3_48462876_48509174 | 48486344 | G | GTATTATA others(244): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02071.hp1 HG02074.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0025a0001c0001t0001g0030a0001c0001t0001g0031others(8): Show | 11 | 290 | 0.0379 | 251 | c.234 others(268): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 2/5 | chr3 | TogoVar | ||||||
| SHISA5_chr3_48462876_48509174 | 48486344 | G | GTATTATA others(244): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 290 | 0.0035 | 251 | c.234 others(268): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 2/5 | chr3 | TogoVar | ||||||
| SHISA5_chr3_48462876_48509174 | 48486344 | G | GTATTATA others(244): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 290 | 0.0035 | 251 | c.234 others(268): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 2/5 | chr3 | TogoVar | ||||||
| SIGIRR_chr11_400716_419999 | 401458 | C | CGGCCCGC others(244): Show |
downstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 242 | 0.0041 | 251 | c.*44 others(262): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4257 | chr11 | TogoVar | ||||||
| SIGIRR_chr11_400716_419999 | 411272 | G | GGGGGGGT others(244): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0003 | a0003c0015 | a0003c0015t0001 | a0003c0015t0001g0225 | 1 | 242 | 0.0041 | 251 | c.-15 others(270): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| SLC46A2_chr9_112873920_112895876 | 112895808 | C | CCATCCAT others(244): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG01257.hp2 HG01358.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0021a0001c0001t0001g0029others(1): Show | 5 | 446 | 0.0112 | 251 | c.-51 others(262): Show |
SLC46A2 | ENSG00000119457.8 | transcript | ENST00000374228.5 | protein_coding | 4933 | chr9 | TogoVar | ||||||
| SLC9A3_chr5_465456_529449 | 507739 | A | ACAGACGC others(244): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0035 | 1 | 218 | 0.0046 | 251 | c.212 others(270): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | ||||||
| SLC9A3_chr5_465456_529449 | 507739 | A | ACAGACGC others(244): Show |
intron_variant | MODIFIER | HG02148.hp1 HG02300.hp2 |
a0001 | a0001c0001a0001c0027 | a0001c0001t0004a0001c0027t0007 | a0001c0001t0004g0027a0001c0027t0007g0136 | 2 | 218 | 0.0092 | 251 | c.212 others(270): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | ||||||
| SLC9A3_chr5_465456_529449 | 507739 | A | ACAGACGC others(244): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01071.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0008a0002c0002t0002 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(4): Show | 7 | 218 | 0.0321 | 251 | c.212 others(270): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | ||||||
| SLCO3A1_chr15_91848708_92170903 | 92143382 | T | TATAAAAT others(244): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 190 | 0.0053 | 251 | c.151 others(270): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| SORCS2_chr4_7187538_7747827 | 7449171 | T | TCCCTTCC others(244): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0080 | 1 | 168 | 0.0060 | 251 | c.548 others(270): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | chr4 | TogoVar | ||||||
| SOX5_chr12_23524504_23954670 | 23867048 | C | CAAAAAAC others(244): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0140 | 1 | 212 | 0.0047 | 251 | c.271 others(270): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 2/14 | chr12 | TogoVar | ||||||
| SPDYE4_chr17_8745853_8763546 | 8746874 | C | CCCTTCCC others(244): Show |
downstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 251 | c.*54 others(262): Show |
SPDYE4 | ENSG00000183318.12 | transcript | ENST00000689094.1 | protein_coding | 3978 | chr17 | TogoVar | ||||||
| SPDYE4_chr17_8745853_8763546 | 8746874 | C | CCCTTCCC others(244): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 251 | c.*54 others(262): Show |
SPDYE4 | ENSG00000183318.12 | transcript | ENST00000689094.1 | protein_coding | 3978 | chr17 | TogoVar | ||||||
| SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(244): Show |
intron_variant | MODIFIER | NA19004.hp1 NA19004.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0001 | a0002c0002t0002g0218a0003c0003t0001g0093 | 2 | 260 | 0.0077 | 251 | c.138 others(270): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | ||||||
| STOML3_chr13_38960925_38995831 | 38988040 | A | ATATATTT others(244): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02683.hp1 HG02698.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0064 | 4 | 396 | 0.0101 | 251 | c.52+ others(266): Show |
STOML3 | ENSG00000133115.12 | transcript | ENST00000379631.9 | protein_coding | 1/6 | chr13 | TogoVar | ||||||
| STOML3_chr13_38960925_38995831 | 38988089 | T | TTATATTT others(244): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02523.hp1 HG02698.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0059others(8): Show | 13 | 396 | 0.0328 | 251 | c.52+ others(266): Show |
STOML3 | ENSG00000133115.12 | transcript | ENST00000379631.9 | protein_coding | 1/6 | chr13 | TogoVar | ||||||
| SYK_chr9_90796819_90903549 | 90884884 | T | TGTGTATA others(244): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0080 | 1 | 376 | 0.0027 | 251 | c.158 others(270): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | chr9 | TogoVar | ||||||
| SYTL3_chr6_158645054_158769871 | 158701221 | A | AAGGAGTG others(244): Show |
intron_variant | MODIFIER | HG02258.hp2 NA19030.hp1 |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0098a0005c0007t0001g0099 | 2 | 292 | 0.0069 | 251 | c.395 others(268): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| TERT_chr5_1248167_1300068 | 1273134 | A | ACGACCGC others(244): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228 | 1 | 392 | 0.0026 | 251 | c.228 others(268): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
| TERT_chr5_1248167_1300068 | 1273681 | G | GACCGCCA others(244): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0356 | 1 | 392 | 0.0026 | 251 | c.228 others(270): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
| TERT_chr5_1248167_1300068 | 1290134 | C | CGTGCCTC others(244): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0377 | 1 | 392 | 0.0026 | 251 | c.157 others(270): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
| TMEM163_chr2_134450759_134724000 | 134609414 | G | GACAGACC others(244): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02622.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0170a0001c0001t0001g0171a0001c0001t0001g0176others(9): Show | 12 | 222 | 0.0541 | 251 | c.323 others(270): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
| TMEM51_chr1_15148747_15225478 | 15225218 | G | GGGGGAGG others(244): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0045 | a0001c0003t0045g0052 | 1 | 298 | 0.0034 | 251 | c.*54 others(262): Show |
TMEM51 | ENSG00000171729.14 | transcript | ENST00000376008.3 | protein_coding | 4741 | chr1 | TogoVar | ||||||
| TMEM51_chr1_15148747_15225478 | 15225218 | G | GGGGGAGG others(244): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG03209.hp2 HG06807.hp2 others(2): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0006a0001c0007t0014a0001c0009t0027 | a0001c0001t0006g0114a0001c0001t0006g0141a0001c0001t0006g0148others(2): Show | 5 | 298 | 0.0168 | 251 | c.*54 others(262): Show |
TMEM51 | ENSG00000171729.14 | transcript | ENST00000376008.3 | protein_coding | 4741 | chr1 | TogoVar | ||||||
| TNNT1_chr19_55127698_55154206 | 55134791 | A | AGGGGAGG others(244): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01109.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0017a0001c0001t0001g0069others(24): Show | 29 | 320 | 0.0906 | 251 | c.612 others(266): Show |
TNNT1 | ENSG00000105048.18 | transcript | ENST00000588981.6 | protein_coding | 11/13 | chr19 | TogoVar | ||||||
| TNNT1_chr19_55127698_55154206 | 55134791 | A | AGGGGAGG others(244): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 | 1 | 320 | 0.0031 | 251 | c.612 others(266): Show |
TNNT1 | ENSG00000105048.18 | transcript | ENST00000588981.6 | protein_coding | 11/13 | chr19 | TogoVar | ||||||
| TNNT1_chr19_55127698_55154206 | 55134791 | A | AGGGGAGG others(244): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00735.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0006a0001c0001t0001g0117a0001c0001t0001g0124others(17): Show | 22 | 320 | 0.0688 | 251 | c.612 others(266): Show |
TNNT1 | ENSG00000105048.18 | transcript | ENST00000588981.6 | protein_coding | 11/13 | chr19 | TogoVar | ||||||
| TNNT1_chr19_55127698_55154206 | 55137506 | A | AGACCCCA others(244): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02976.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0148a0001c0001t0001g0274a0001c0001t0002g0273 | 3 | 320 | 0.0094 | 251 | c.502 others(266): Show |
TNNT1 | ENSG00000105048.18 | transcript | ENST00000588981.6 | protein_coding | 10/13 | chr19 | TogoVar | ||||||
| TNNT1_chr19_55127698_55154206 | 55137508 | A | ACCCCAGC others(244): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0209 | 1 | 320 | 0.0031 | 251 | c.502 others(266): Show |
TNNT1 | ENSG00000105048.18 | transcript | ENST00000588981.6 | protein_coding | 10/13 | chr19 | TogoVar | ||||||
| TRIM49D1_chr11_89906409_89927245 | 89909246 | A | ATTTTATG others(244): Show |
downstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0093 | 1 | 208 | 0.0048 | 251 | c.*23 others(262): Show |
TRIM49D1 | ENSG00000223417.9 | transcript | ENST00000420869.3 | protein_coding | 2162 | chr11 | TogoVar | ||||||
| TRIM49D1_chr11_89906409_89927245 | 89909297 | A | AATATAAA others(244): Show |
downstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 208 | 0.0048 | 251 | c.*22 others(262): Show |
TRIM49D1 | ENSG00000223417.9 | transcript | ENST00000420869.3 | protein_coding | 2111 | chr11 | TogoVar | ||||||
| TRIM49D1_chr11_89906409_89927245 | 89909297 | A | AATATAAA others(244): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 208 | 0.0048 | 251 | c.*22 others(262): Show |
TRIM49D1 | ENSG00000223417.9 | transcript | ENST00000420869.3 | protein_coding | 2111 | chr11 | TogoVar | ||||||
| TRIML1_chr4_188134441_188152743 | 188151827 | A | AGTGGGGG others(244): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0129 | 1 | 228 | 0.0044 | 251 | c.*44 others(262): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4085 | chr4 | TogoVar | ||||||
| TWIST2_chr2_238843085_238915534 | 238870316 | C | CACCACAC others(244): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0099 | 1 | 338 | 0.0030 | 251 | c.*35 others(270): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
| ULK1_chr12_131889622_131928150 | 131917308 | G | GCTGTGGG others(244): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0178 | 1 | 344 | 0.0029 | 251 | c.218 others(268): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | chr12 | TogoVar | ||||||
| ULK1_chr12_131889622_131928150 | 131917328 | T | TGGGGCTC others(244): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0008 | a0002c0008t0027 | a0002c0008t0027g0188 | 1 | 344 | 0.0029 | 251 | c.218 others(266): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| UNG_chr12_109092597_109115992 | 109106965 | T | TGTATATA others(244): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 452 | 0.0022 | 251 | c.802 others(268): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 6/6 | chr12 | TogoVar | ||||||
| VCX3B_chrX_8459830_8471510 | 8466914 | G | GGGAGGGG others(244): Show |
downstream_gene_variant | MODIFIER | NA18984.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0011 | 1 | 271 | 0.0037 | 251 | c.*53 others(260): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 405 | chrX | TogoVar | ||||||
| WDR87_chr19_37879823_37911594 | 37881103 | A | ATATAATA others(244): Show |
downstream_gene_variant | MODIFIER | NA19068.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0004 | 1 | 330 | 0.0030 | 251 | c.*38 others(262): Show |
WDR87 | ENSG00000171804.11 | transcript | ENST00000447313.7 | protein_coding | 3719 | chr19 | TogoVar | ||||||
| XPR1_chr1_180627022_180895279 | 180656475 | C | CATTATAT others(244): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 330 | 0.0030 | 251 | c.69+ others(268): Show |
XPR1 | ENSG00000143324.14 | transcript | ENST00000367590.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| XPR1_chr1_180627022_180895279 | 180656475 | C | CATTATAT others(244): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01175.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174a0001c0001t0001g0178a0001c0001t0001g0179others(1): Show | 4 | 330 | 0.0121 | 251 | c.69+ others(268): Show |
XPR1 | ENSG00000143324.14 | transcript | ENST00000367590.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ZFPM1_chr16_88448280_88542031 | 88461126 | T | TGGGGCGG others(244): Show |
intron_variant | MODIFIER | HG01975.hp1 HG01981.hp1 HG02148.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0060others(1): Show | a0001c0001t0001a0001c0001t0047a0002c0002t0001others(2): Show | a0001c0001t0001g0065a0001c0001t0047g0122a0002c0002t0001g0072others(2): Show | 5 | 318 | 0.0157 | 251 | c.40+ others(266): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ZNF16_chr8_144925358_144955880 | 144946881 | G | GGGGCCTG others(244): Show |
intron_variant | MODIFIER | HG02451.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0047a0001c0003t0001g0048 | 2 | 404 | 0.0050 | 251 | c.-9- others(264): Show |
ZNF16 | ENSG00000170631.15 | transcript | ENST00000394909.7 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
| ZNF16_chr8_144925358_144955880 | 144946881 | G | GGGGCCTG others(244): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02451.hp1 |
a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0049a0003c0007t0001g0050 | 2 | 404 | 0.0050 | 251 | c.-9- others(264): Show |
ZNF16 | ENSG00000170631.15 | transcript | ENST00000394909.7 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
| ZSCAN22_chr19_58321994_58347332 | 58326617 | T | TCTCACAC others(244): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 400 | 0.0025 | 251 | c.-54 others(260): Show |
ZSCAN22 | ENSG00000182318.6 | transcript | ENST00000329665.5 | protein_coding | 376 | chr19 | TogoVar | ||||||
| ZSCAN5A_chr19_56216303_56319839 | 56302581 | C | CTCCCTCC others(244): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 362 | 0.0028 | 251 | c.-12 others(272): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1064859 | C | CTATGCAT others(245): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01257.hp2 HG01346.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0146a0001c0001t0002g0131a0001c0001t0003g0079others(1): Show | 4 | 337 | 0.0119 | 252 | c.118 others(271): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1289187 | C | CCGTGTCT others(245): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 295 | 0.0034 | 252 | c.*43 others(263): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3203 | chr1 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1289375 | T | TCCCCCGT others(245): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 295 | 0.0034 | 252 | c.*41 others(263): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3015 | chr1 | TogoVar |