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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGTGTGAC others(840): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0189 | 1 | 210 | 0.0048 | 847 | c.227 others(864): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
QSOX2_chr9_136201333_136250812 | 136234723 | G | GGCTTGGG others(840): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0282 | 1 | 140 | 0.0071 | 847 | c.329 others(864): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(840): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0125 | 1 | 19 | 0.0526 | 847 | c.24+ others(864): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3341673 | A | AGGGTGGA others(840): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0151 | 1 | 301 | 0.0033 | 847 | c.188 others(866): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(840): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0021 | a0003c0021t0001 | a0003c0021t0001g0071 | 1 | 2 | 0.5000 | 847 | c.-12 others(866): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 433278 | G | GATGGCAC others(840): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0077 | 1 | 208 | 0.0048 | 847 | c.111 others(866): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(840): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0029 | a0002c0029t0005 | a0002c0029t0005g0015 | 1 | 2 | 0.5000 | 847 | c.227 others(866): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTTT others(840): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 7 | 0.1429 | 847 | c.*17 others(866): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(840): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0095 | a0001c0001t0095g0308 | 1 | 3 | 0.3333 | 847 | c.597 others(864): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(840): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 3 | 0.3333 | 847 | c.597 others(864): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473275 | G | GAGAGGAA others(840): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0214 | 1 | 319 | 0.0031 | 847 | c.597 others(864): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
TJP3_chr19_3703384_3755813 | 3742665 | A | AGGCATGG others(840): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0339 | 1 | 270 | 0.0037 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3742665 | A | AGGCATGG others(840): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0050 | 1 | 270 | 0.0037 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3742665 | A | AGGCATGG others(840): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0012 | a0012c0044 | a0012c0044t0002 | a0012c0044t0002g0379 | 1 | 270 | 0.0037 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3742665 | A | AGGCATGG others(840): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(99): Show |
a0001a0002a0003others(2): Show | a0001c0005a0001c0011a0001c0022others(6): Show | a0001c0005t0001a0001c0011t0001a0001c0022t0001others(9): Show | a0001c0005t0001g0120 a0001c0005t0001g0153 a0001c0005t0001g0170 others(98): Show |
102 | 371 | 0.2749 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3742665 | A | AGGCATGG others(840): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0334 | 1 | 270 | 0.0037 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3742665 | A | AGGCATGG others(840): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG02486.hp2 others(10): Show |
a0005a0007a0013others(2): Show | a0005c0010a0007c0021a0013c0048others(2): Show | a0005c0010t0001a0005c0010t0004a0005c0010t0007others(4): Show | a0005c0010t0001g0112 a0005c0010t0001g0113 a0005c0010t0001g0114 others(10): Show |
13 | 282 | 0.0461 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3742665 | A | AGGCATGG others(840): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02145.hp1 HG02647.hp1 others(3): Show |
a0002a0005 | a0002c0006a0005c0016 | a0002c0006t0002a0005c0016t0001a0005c0016t0004 | a0002c0006t0002g0243 a0005c0016t0001g0164 a0005c0016t0001g0210 others(3): Show |
6 | 275 | 0.0218 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3742665 | A | AGGCATGG others(840): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0289 | 1 | 270 | 0.0037 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(840): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0040 | 1 | 128 | 0.0078 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(840): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00673.hp2 others(47): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0005a0001c0015others(15): Show | a0001c0002t0001a0001c0002t0004a0001c0005t0001others(19): Show | a0001c0002t0001g0118 a0001c0002t0001g0172 a0001c0002t0001g0194 others(47): Show |
50 | 177 | 0.2825 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(840): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0004 | a0004c0019 | a0004c0019t0002 | a0004c0019t0002g0288 | 1 | 128 | 0.0078 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(840): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0008 | a0008c0020 | a0008c0020t0004 | a0008c0020t0004g0081 | 1 | 128 | 0.0078 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(840): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03209.hp1 |
a0019a0022 | a0019c0055a0022c0059 | a0019c0055t0001a0022c0059t0001 | a0019c0055t0001g0124 a0022c0059t0001g0123 |
2 | 129 | 0.0155 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(840): Show |
intron_variant | MODIFIER | HG02074.hp2 NA18947.hp2 NA18984.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0176 a0001c0002t0001g0199 a0001c0002t0001g0247 |
3 | 130 | 0.0231 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(840): Show |
intron_variant | MODIFIER | HG02258.hp2 NA20129.hp2 |
a0004 | a0004c0019 | a0004c0019t0002a0004c0019t0003 | a0004c0019t0002g0241 a0004c0019t0003g0013 |
2 | 129 | 0.0155 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(840): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0037 | 1 | 128 | 0.0078 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(840): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(29): Show |
a0001a0002 | a0001c0002a0001c0012a0001c0015others(2): Show | a0001c0002t0001a0001c0002t0004a0001c0012t0001others(3): Show | a0001c0002t0001g0002 a0001c0002t0001g0139 a0001c0002t0001g0180 others(28): Show |
32 | 159 | 0.2013 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(840): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 a0001c0002t0001g0380 |
2 | 129 | 0.0155 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(840): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0005 | a0005c0010 | a0005c0010t0004 | a0005c0010t0004g0086 | 1 | 128 | 0.0078 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(840): Show |
intron_variant | MODIFIER | HG02074.hp2 NA19074.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0073 a0001c0001t0001g0296 |
3 | 37 | 0.0811 | 847 | c.*35 others(866): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169830 | C | CCCTCCCT others(840): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0008 | 1 | 106 | 0.0094 | 847 | c.*20 others(856): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 113 | chrX | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(841): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0153 | 1 | 12 | 0.0833 | 848 | c.387 others(867): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770602 | A | AATAAAAA others(841): Show |
upstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 224 | 0.0045 | 848 | c.-10 others(859): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1042 | chr3 | TogoVar | |||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(841): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 27 | 0.0370 | 848 | c.94+ others(863): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(841): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0012 | 1 | 299 | 0.0033 | 848 | c.*36 others(859): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(841): Show |
downstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 299 | 0.0033 | 848 | c.*36 others(859): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCC others(841): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 299 | 0.0033 | 848 | c.*36 others(859): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82971701 | G | GGGGCCAG others(841): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0009 | 1 | 255 | 0.0039 | 848 | c.460 others(865): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
BOK_chr2_241553745_241579131 | 241570689 | G | GTGGGGGT others(841): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 | 1 | 260 | 0.0038 | 848 | c.513 others(863): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
BOK_chr2_241553745_241579131 | 241570689 | G | GTGGGGGT others(841): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 260 | 0.0038 | 848 | c.513 others(863): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(841): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0043 | a0002c0043t0001 | a0002c0043t0001g0203 | 1 | 194 | 0.0052 | 848 | c.300 others(865): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181863 | A | ACACACAC others(841): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 435 | 0.0023 | 848 | c.193 others(865): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CCDC57_chr17_82096470_82217842 | 82215658 | G | GCCCCCAC others(841): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0091 | 1 | 50 | 0.0200 | 848 | c.-28 others(859): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2817 | chr17 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(841): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG02129.hp1 |
a0001a0003 | a0001c0001a0003c0063 | a0001c0001t0001a0003c0063t0002 | a0001c0001t0001g0191 a0003c0063t0002g0194 |
2 | 67 | 0.0299 | 848 | c.-25 others(859): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(841): Show |
upstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 66 | 0.0152 | 848 | c.-25 others(859): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(841): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0239 | 1 | 2 | 0.5000 | 848 | c.162 others(869): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(841): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0259 | 1 | 3 | 0.3333 | 848 | c.110 others(865): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4258514 | G | GGAGGGAG others(841): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0005 | a0005c0064 | a0005c0064t0050 | a0005c0064t0050g0078 | 1 | 2 | 0.5000 | 848 | c.415 others(869): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(841): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0008 | a0008c0010 | a0008c0010t0006 | a0008c0010t0006g0002 | 1 | 97 | 0.0103 | 848 | c.923 others(867): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar |