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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(485): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0245 | 1 | 33 | 0.0303 | 492 | c.53- others(505): 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(485): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02293.hp1 HG03471.hp2 others(3): Show |
a0002a0005 | a0002c0002a0002c0010a0005c0005 | a0002c0002t0001a0002c0002t0006a0002c0010t0005others(1): Show | a0002c0002t0001g0072 a0002c0002t0001g0223 a0002c0002t0006g0112 others(3): Show |
6 | 38 | 0.1579 | 492 | c.53- others(505): 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(485): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0118 | 1 | 33 | 0.0303 | 492 | c.53- others(505): 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(485): Show |
intron_variant | MODIFIER | HG00438.hp1 NA19011.hp2 |
a0009a0010 | a0009c0011a0010c0012 | a0009c0011t0002a0010c0012t0004 | a0009c0011t0002g0080 a0010c0012t0004g0079 |
2 | 34 | 0.0588 | 492 | c.53- others(505): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ZC3H12B_chrX_65029826_65512887 | 65450477 | G | GTATATAT others(485): Show |
intron_variant | MODIFIER | NA19066.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 a0001c0001t0001g0138 |
2 | 135 | 0.0148 | 492 | c.-15 others(513): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377685 | T | TGATCTGA others(485): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01123.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0015 a0001c0001t0003g0019 a0001c0001t0007g0008 others(3): Show |
6 | 292 | 0.0205 | 492 | c.*40 others(507): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370978 | C | CATATGTG others(485): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0084 | 1 | 223 | 0.0045 | 492 | c.-34 others(503): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3390 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370978 | C | CATATGTG others(485): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 223 | 0.0045 | 492 | c.-34 others(503): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3390 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370978 | C | CATATGTG others(485): Show |
upstream_gene_variant | MODIFIER | NA19081.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 223 | 0.0045 | 492 | c.-34 others(503): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3390 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370996 | C | CATATATC others(485): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 276 | 0.0036 | 492 | c.-34 others(503): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3372 | chr10 | TogoVar | |||||||
ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(485): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0020 | 1 | 183 | 0.0055 | 492 | c.-42 others(503): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | |||||||
ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(486): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 30 | 0.0333 | 493 | c.*51 others(504): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(486): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0003 | a0002c0003t0021 | a0002c0003t0021g0250 | 1 | 206 | 0.0049 | 493 | c.106 others(512): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15406286 | G | GTGTGTAT others(486): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0007 | a0007c0024 | a0007c0024t0004 | a0007c0024t0004g0224 | 1 | 196 | 0.0051 | 493 | c.610 others(512): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 5/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15406286 | G | GTGTGTAT others(486): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0065 | 1 | 196 | 0.0051 | 493 | c.610 others(512): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 5/12 | chr7 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243525831 | G | GGGGGAGG others(486): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 183 | 0.0055 | 493 | c.125 others(514): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243525831 | G | GGGGGAGG others(486): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0018 | 1 | 183 | 0.0055 | 493 | c.125 others(514): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243525831 | G | GGGGGAGG others(486): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0167 | 1 | 183 | 0.0055 | 493 | c.125 others(514): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(486): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 HG03516.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0034 | a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0034g0000 |
3 | 12 | 0.2500 | 493 | c.*10 others(506): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132729611 | T | TGAGGGGA others(486): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02622.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 others(3): Show |
6 | 142 | 0.0423 | 493 | c.248 others(508): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687120 | C | CCCCGTGA others(486): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0088 a0001c0002t0001g0078 |
2 | 224 | 0.0089 | 493 | c.-15 others(504): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1275 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687321 | C | CGAGCACT others(486): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 141 | 0.0071 | 493 | c.-17 others(504): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1476 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687687 | A | ACCCCGTG others(486): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 172 | 0.0058 | 493 | c.-20 others(504): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1842 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130050096 | G | GGGGGCAG others(486): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0244 | 1 | 287 | 0.0035 | 493 | c.*46 others(504): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2007 | chr8 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112714047 | G | GACCCCTG others(486): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(167): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(82): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(167): Show |
170 | 171 | 0.9942 | 493 | c.39+ others(510): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112714047 | G | GACCCCTG others(486): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03041.hp2 HG03453.hp1 |
a0001 | a0001c0002a0001c0016 | a0001c0002t0014a0001c0016t0004 | a0001c0002t0014g0213 a0001c0016t0004g0214 a0001c0016t0004g0215 |
3 | 4 | 0.7500 | 493 | c.39+ others(510): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112714047 | G | GACCCCTG others(486): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0058 | 1 | 2 | 0.5000 | 493 | c.39+ others(510): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112714047 | G | GACCCCTG others(486): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0212 | 1 | 2 | 0.5000 | 493 | c.39+ others(510): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112714052 | C | CTGATGGC others(486): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0211 | 1 | 252 | 0.0040 | 493 | c.39+ others(510): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
C2orf16_chr2_27532386_27587722 | 27539791 | G | GTCCTCAC others(486): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0014 | a0014c0012 | a0014c0012t0001 | a0014c0012t0001g0261 | 1 | 214 | 0.0047 | 493 | c.144 others(510): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585233 | A | ATTGAGGG others(486): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0117 | 1 | 335 | 0.0030 | 493 | c.-22 others(510): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585351 | T | TGAGGGAG others(486): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0329 | 1 | 337 | 0.0030 | 493 | c.-22 others(510): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585358 | G | GAGGAGGG others(486): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0106 | 1 | 322 | 0.0031 | 493 | c.-22 others(510): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585380 | T | TGAGGGAG others(486): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 333 | 0.0030 | 493 | c.-22 others(510): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585409 | T | TGAGGGAA others(486): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0316 | 1 | 336 | 0.0030 | 493 | c.-22 others(510): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585467 | T | TGAGGGAG others(486): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0170 | 1 | 325 | 0.0031 | 493 | c.-22 others(510): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(486): Show |
intron_variant | MODIFIER | HG01981.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0272 a0001c0001t0005g0273 |
2 | 262 | 0.0076 | 493 | c.-22 others(510): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(486): Show |
intron_variant | MODIFIER | NA18966.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 a0001c0001t0002g0256 |
2 | 262 | 0.0076 | 493 | c.-22 others(510): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6004197 | G | GTGATGGT others(486): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01123.hp1 |
a0043a0048 | a0043c0075a0048c0051 | a0043c0075t0001a0048c0051t0001 | a0043c0075t0001g0278 a0048c0051t0001g0053 |
2 | 343 | 0.0058 | 493 | c.963 others(510): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(486): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0024 | a0024c0021 | a0024c0021t0004 | a0024c0021t0004g0069 | 1 | 103 | 0.0097 | 493 | c.300 others(510): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182049 | A | ACACACAC others(486): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 316 | 0.0032 | 493 | c.193 others(510): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544780 | T | TCGTCTCC others(486): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 125 | 0.0080 | 493 | c.-22 others(510): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544780 | T | TCGTCTCC others(486): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02004.hp1 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0136 a0001c0008t0001g0227 |
2 | 126 | 0.0159 | 493 | c.-22 others(510): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(486): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 4 | 0.2500 | 493 | c.712 others(510): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CCDC6_chr10_59783747_59911556 | 59882220 | G | GAAGGAAA others(486): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 134 | 0.0075 | 493 | c.303 others(512): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(486): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 12 | 0.0833 | 493 | c.-45 others(514): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116158291 | C | CTCCGTCT others(486): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 21 | 0.0476 | 493 | c.510 others(512): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | chr5 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647663 | T | TTCTCCTC others(486): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0024 | 1 | 271 | 0.0037 | 493 | c.*55 others(504): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2319 | chr15 | TogoVar | |||||||
CRYBG3_chr3_97817011_97949984 | 97881522 | C | CCTGGCCA others(486): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0017 | a0017c0020 | a0017c0020t0009 | a0017c0020t0009g0029 | 2 | 314 | 0.0064 | 493 | c.715 others(510): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4174757 | T | TGAGGAAG others(486): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0115 | a0001c0115t0042 | a0001c0115t0042g0055 | 1 | 16 | 0.0625 | 493 | c.416 others(514): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar |