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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNAPC4_chr9_136370571_136405170 | 136403327 | G | GAGAAAGG others(463): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 380 | 0.0026 | 470 | c.-32 others(481): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3158 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136403393 | A | AGGGAGCA others(463): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 380 | 0.0026 | 470 | c.-32 others(481): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3224 | chr9 | TogoVar | |||||||
SNPH_chr20_1261294_1314327 | 1301629 | A | ATCTAATT others(463): Show |
intron_variant | MODIFIER | HG01168.hp2 HG04204.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0019 | a0001c0001t0017g0263 a0001c0001t0019g0147 a0001c0001t0019g0168 |
3 | 350 | 0.0086 | 470 | c.440 others(485): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7724696 | T | TTGGTGAT others(463): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0067 | 1 | 168 | 0.0060 | 470 | c.261 others(487): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24190091 | A | AATGATAT others(463): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0166 | 1 | 356 | 0.0028 | 470 | c.-11 others(491): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852224 | A | AGATCCCC others(463): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0152 a0001c0001t0001g0153 others(4): Show |
7 | 356 | 0.0197 | 470 | c.645 others(487): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9706078 | C | CTGGTGAT others(463): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0005 | a0002c0005t0007 | a0002c0005t0007g0028 | 1 | 294 | 0.0034 | 470 | c.241 others(487): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(463): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0154 | 1 | 276 | 0.0036 | 470 | c.-18 others(489): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 46772076 | T | TACATATA others(463): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0005 | a0005c0006 | a0005c0006t0021 | a0005c0006t0021g0019 | 1 | 112 | 0.0089 | 470 | c.62+ others(485): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46772268 | T | TACACATA others(463): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 112 | 0.0089 | 470 | c.62+ others(485): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
THEG_chr19_356747_381026 | 376952 | G | GTGTGCCC others(463): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0232 | 1 | 370 | 0.0027 | 470 | c.-98 others(479): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 927 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377496 | T | TCTGTGCC others(463): Show |
upstream_gene_variant | MODIFIER | NA19087.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0316 | 1 | 370 | 0.0027 | 470 | c.-15 others(481): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1471 | chr19 | TogoVar | |||||||
THSD4_chr15_71110471_71788383 | 71199804 | G | GTGTGTGT others(463): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 116 | 0.0086 | 470 | c.100 others(489): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747431 | G | GCTGGGGT others(463): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0234 | 1 | 314 | 0.0032 | 470 | c.189 others(485): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157312860 | T | TAGTTTCC others(463): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 344 | 0.0029 | 470 | c.327 others(487): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2418315 | C | CTCCTTCC others(463): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0005 | a0005c0010 | a0005c0010t0002 | a0005c0010t0002g0083 | 1 | 114 | 0.0088 | 470 | c.215 others(487): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870685 | C | CCACACAC others(463): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 338 | 0.0030 | 470 | c.*35 others(489): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530465 | T | TAATATAA others(463): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0138 | 1 | 238 | 0.0042 | 470 | c.392 others(487): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917219 | C | CGGGTTCG others(463): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0248 | 1 | 344 | 0.0029 | 470 | c.218 others(487): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(463): Show |
intron_variant | MODIFIER | HG00280.hp1 HG03704.hp2 |
a0008a0018 | a0008c0009a0018c0022 | a0008c0009t0010a0018c0022t0015 | a0008c0009t0010g0056 a0018c0022t0015g0054 |
2 | 246 | 0.0081 | 470 | c.53- others(483): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(463): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0003 | a0003c0003t0040 | a0003c0003t0040g0057 | 1 | 246 | 0.0041 | 470 | c.53- others(483): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
WDR87_chr19_37879823_37911594 | 37881089 | A | AATATATA others(463): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0005 | 1 | 330 | 0.0030 | 470 | c.*38 others(481): Show |
WDR87 | ENSG00000171804.11 | transcript | ENST00000447313.7 | protein_coding | 3733 | chr19 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46289983 | G | GTGTGTGT others(463): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0259 a0001c0001t0002g0260 |
2 | 404 | 0.0050 | 470 | c.211 others(487): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46289983 | G | GTGTGTGT others(463): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(265): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0130 others(255): Show |
268 | 404 | 0.6634 | 470 | c.211 others(487): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46289983 | G | GTGTGTGT others(463): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 404 | 0.0025 | 470 | c.211 others(487): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46290013 | G | GTGCAAGG others(463): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0261 | 1 | 404 | 0.0025 | 470 | c.211 others(487): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ZC3H12B_chrX_65029826_65512887 | 65450462 | T | TATATGTG others(463): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0057 |
2 | 165 | 0.0121 | 470 | c.-15 others(491): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ZC3H12B_chrX_65029826_65512887 | 65450462 | T | TATATGTG others(463): Show |
intron_variant | MODIFIER | NA18986.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0116 |
2 | 165 | 0.0121 | 470 | c.-15 others(491): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ZC3H12B_chrX_65029826_65512887 | 65450462 | T | TATATGTG others(463): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 165 | 0.0061 | 470 | c.-15 others(491): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ZC3H12B_chrX_65029826_65512887 | 65450462 | T | TATATGTG others(463): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01099.hp1 HG01169.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0036 others(25): Show |
28 | 165 | 0.1697 | 470 | c.-15 others(491): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ZC3H12B_chrX_65029826_65512887 | 65450462 | T | TATATGTG others(463): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 165 | 0.0061 | 470 | c.-15 others(491): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ZNF365_chr10_62369369_62407450 | 62370969 | G | GATATATA others(463): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0046 | 1 | 350 | 0.0029 | 470 | c.-35 others(481): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3399 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370969 | G | GATATATA others(463): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 350 | 0.0029 | 470 | c.-35 others(481): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3399 | chr10 | TogoVar | |||||||
ZSCAN32_chr16_3377085_3406004 | 3393202 | T | TTCTATAT others(463): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0266 | 1 | 400 | 0.0025 | 470 | c.532 others(485): Show |
ZSCAN32 | ENSG00000140987.21 | transcript | ENST00000396852.9 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
ZSCAN32_chr16_3377085_3406004 | 3393202 | T | TTCTATAT others(463): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0252 | 1 | 400 | 0.0025 | 470 | c.532 others(485): Show |
ZSCAN32 | ENSG00000140987.21 | transcript | ENST00000396852.9 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
ZSCAN32_chr16_3377085_3406004 | 3393202 | T | TTCTATAT others(463): Show |
intron_variant | MODIFIER | NA18962.hp1 NA18964.hp1 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 a0001c0001t0003g0255 |
3 | 400 | 0.0075 | 470 | c.532 others(485): Show |
ZSCAN32 | ENSG00000140987.21 | transcript | ENST00000396852.9 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20669003 | C | CGCCCCAT others(464): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0031 | a0031c0033 | a0031c0033t0003 | a0031c0033t0003g0038 | 1 | 360 | 0.0028 | 471 | c.170 others(492): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16172204 | A | ATAAATGA others(464): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 357 | 0.0028 | 471 | c.278 others(490): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(464): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0125 | 1 | 376 | 0.0027 | 471 | c.-11 others(482): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277913 | C | CGAGACCA others(464): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 276 | 0.0036 | 471 | c.535 others(488): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132729625 | G | GGAGGAGG others(464): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 | 1 | 350 | 0.0029 | 471 | c.248 others(486): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83022594 | G | GAGCTTAG others(464): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0069 | 1 | 266 | 0.0038 | 471 | c.298 others(488): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
BDH1_chr3_197504783_197560968 | 197517781 | T | TCAGTCAC others(464): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0013 | 1 | 319 | 0.0031 | 471 | c.410 others(488): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 6/7 | chr3 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 544715 | A | ACGTCGTC others(464): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0397 | 1 | 410 | 0.0024 | 471 | c.-22 others(488): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803214 | T | TGGGGCCC others(464): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 398 | 0.0025 | 471 | c.666 others(486): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803215 | G | GGGGGCCC others(464): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0043 | 1 | 398 | 0.0025 | 471 | c.666 others(486): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(464): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 256 | 0.0039 | 471 | c.-45 others(492): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDH23_chr10_71391920_71820947 | 71420464 | A | ATGATGGT others(464): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0081 | a0081c0041 | a0081c0041t0001 | a0081c0041t0001g0178 | 1 | 196 | 0.0051 | 471 | c.-5- others(488): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 1/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24881816 | C | CTATATAG others(464): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0052 | 1 | 440 | 0.0023 | 471 | c.*13 others(482): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 462 | chr13 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 628568 | T | TCCCAGGA others(464): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18982.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0070 a0002c0002t0001g0074 |
2 | 91 | 0.0220 | 471 | c.512 others(488): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |