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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COLEC12_chr18_311737_505701 | 319321 | TAAAAAAA others(4): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02257.hp2 | a0004 | a0004c0006 | a0004c0006t0202 | a0004c0006t0202g0342 | 1 | 366 | 0.0027 | -11 | c.*71 others(20): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 713 | chr18 | TogoVar | |||||
COLEC12_chr18_311737_505701 | 319332 | AAAAAAAA others(4): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02809.hp1 HG02970.hp1 NA18973.hp1 others(1): Show |
a0001a0002 | a0001c0005a0002c0001 | a0001c0005t0218a0002c0001t0216a0002c0001t0217others(1): Show | a0001c0005t0218g0240a0002c0001t0216g0303a0002c0001t0217g0325others(1): Show | 4 | 366 | 0.0109 | -11 | c.*70 others(20): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 702 | chr18 | TogoVar | |||||
COLEC12_chr18_311737_505701 | 319334 | AAAAAAAA others(4): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01433.hp1 HG02129.hp2 HG03486.hp2 others(4): Show |
a0002a0003a0004 | a0002c0001a0003c0002a0004c0006 | a0002c0001t0020a0002c0001t0235a0002c0001t0237others(2): Show | a0002c0001t0020g0191a0002c0001t0020g0209a0002c0001t0020g0311others(4): Show | 7 | 366 | 0.0191 | -11 | c.*70 others(20): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 700 | chr18 | TogoVar | |||||
COLEC12_chr18_311737_505701 | 319336 | AAAAAAAT others(4): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01071.hp2 others(7): Show |
a0001a0002a0003 | a0001c0004a0002c0001a0003c0002 | a0001c0004t0243a0002c0001t0021a0002c0001t0048others(3): Show | a0001c0004t0243g0275a0002c0001t0021g0082a0002c0001t0021g0168others(6): Show | 10 | 366 | 0.0273 | -11 | c.*69 others(20): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 698 | chr18 | TogoVar | |||||
COLEC12_chr18_311737_505701 | 470220 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0124 | 1 | 366 | 0.0027 | -11 | c.58+ others(28): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 472678 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG02486.hp1 HG02622.hp1 others(5): Show |
a0001a0002a0003 | a0001c0004a0001c0005a0002c0001others(1): Show | a0001c0004t0043a0001c0004t0191a0001c0005t0248others(5): Show | a0001c0004t0043g0116a0001c0004t0191g0118a0001c0005t0248g0357others(5): Show | 8 | 366 | 0.0219 | -11 | c.58+ others(26): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 488872 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp2 HG01433.hp1 others(20): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0005others(6): Show | a0001c0003t0004a0001c0003t0061a0001c0003t0063others(19): Show | a0001c0003t0004g0294a0001c0003t0061g0292a0001c0003t0063g0295others(20): Show | 23 | 366 | 0.0628 | -11 | c.8-8 others(24): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 1/9 | chr18 | TogoVar | ||||||
COLGALT1_chr19_17550649_17588157 | 17550843 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0101 | 1 | 396 | 0.0025 | -11 | c.-48 others(22): Show |
COLGALT1 | ENSG00000130309.12 | transcript | ENST00000252599.9 | protein_coding | 4805 | chr19 | TogoVar | ||||||
COLGALT1_chr19_17550649_17588157 | 17586467 | GCAGGAGG others(4): Show |
G | downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0131 | 1 | 396 | 0.0025 | -11 | c.*50 others(22): Show |
COLGALT1 | ENSG00000130309.12 | transcript | ENST00000252599.9 | protein_coding | 3311 | chr19 | TogoVar | ||||||
COLGALT2_chr1_183930834_184042728 | 183994026 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0182a0001c0001t0010g0202 | 2 | 340 | 0.0059 | -11 | c.264 others(30): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
COLQ_chr3_15445133_15526706 | 15520063 | TTCCTTAA others(4): Show |
T | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 382 | 0.0026 | -11 | c.106 others(28): Show |
COLQ | ENSG00000206561.14 | transcript | ENST00000383788.10 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
COLQ_chr3_15445133_15526706 | 15524581 | CTTGTAGG others(4): Show |
C | upstream_gene_variant | MODIFIER | HG02970.hp2 HG02976.hp1 NA19240.hp1 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0269a0002c0002t0008g0270a0002c0002t0008g0271 | 3 | 382 | 0.0079 | -11 | c.-29 others(22): Show |
COLQ | ENSG00000206561.14 | transcript | ENST00000383788.10 | protein_coding | 2876 | chr3 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116097299 | TATAATGA others(4): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 350 | 0.0029 | -11 | c.399 others(28): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
COMMD10_chr5_116080025_116298287 | 116153614 | TGCAATTA others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(106): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0087a0001c0002t0001g0081a0001c0002t0001g0083others(106): Show | 109 | 350 | 0.3114 | -11 | c.510 others(30): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
COMMD10_chr5_116080025_116298287 | 116182317 | AAGAGAAA others(4): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 350 | 0.0029 | -11 | c.510 others(30): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
COMMD6_chr13_75520214_75542841 | 75529563 | TCCCACCT others(4): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00544.hp2 others(56): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0003a0001c0001t0002g0018a0001c0001t0002g0019others(15): Show | 59 | 396 | 0.1490 | -11 | c.207 others(26): Show |
COMMD6 | ENSG00000188243.14 | transcript | ENST00000682242.1 | protein_coding | 3/3 | chr13 | TogoVar | ||||||
COMMD7_chr20_32697699_32748467 | 32727687 | GCTGTGCT others(4): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(224): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(205): Show | 227 | 400 | 0.5675 | -11 | c.241 others(26): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 3/8 | chr20 | TogoVar | ||||||
COMP_chr19_18777773_18796305 | 18786763 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0176 | 1 | 398 | 0.0025 | -11 | c.113 others(28): Show |
COMP | ENSG00000105664.11 | transcript | ENST00000222271.7 | protein_coding | 10/18 | chr19 | TogoVar | ||||||
COMT_chr22_19936772_19974975 | 19949359 | TCGAATTC others(4): Show |
T | intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0154 | 1 | 426 | 0.0024 | -11 | c.-92 others(28): Show |
COMT | ENSG00000093010.15 | transcript | ENST00000361682.11 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
COP1_chr1_175939831_176212286 | 176204119 | CACACAAA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG02735.hp1 HG03654.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0270a0001c0001t0004g0271a0001c0001t0004g0272others(4): Show | 7 | 300 | 0.0233 | -11 | c.407 others(28): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
COPA_chr1_160283594_160348250 | 160318481 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01070.hp2 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0023others(50): Show | 64 | 366 | 0.1749 | -11 | c.707 others(28): Show |
COPA | ENSG00000122218.17 | transcript | ENST00000241704.8 | protein_coding | 8/32 | chr1 | TogoVar | ||||||
COPB1_chr11_14452512_14504811 | 14475093 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 386 | 0.0026 | -11 | c.161 others(28): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 13/21 | chr11 | TogoVar | ||||||
COPB2_chr3_139352406_139394647 | 139380003 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 264 | 0.0038 | -11 | c.142 others(26): Show |
COPB2 | ENSG00000184432.11 | transcript | ENST00000333188.10 | protein_coding | 2/21 | chr3 | TogoVar | ||||||
COPG1_chr3_129244606_129282773 | 129263035 | AGAGTCCT others(4): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02738.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0002a0001c0007a0001c0009 | a0001c0002t0002a0001c0007t0002a0001c0009t0002 | a0001c0002t0002g0056a0001c0002t0002g0063a0001c0002t0002g0065others(3): Show | 6 | 326 | 0.0184 | -11 | c.112 others(28): Show |
COPG1 | ENSG00000181789.14 | transcript | ENST00000314797.10 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COPG2_chr7_130501238_130673748 | 130510711 | CTGAAACC others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00544.hp2 others(105): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0030a0001c0001t0001g0071a0001c0001t0001g0072others(105): Show | 108 | 326 | 0.3313 | -11 | c.215 others(30): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar | ||||||
COPG2_chr7_130501238_130673748 | 130531756 | ACTGGAGA others(4): Show |
A | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0099 | 1 | 326 | 0.0031 | -11 | c.214 others(32): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar | ||||||
COPG2_chr7_130501238_130673748 | 130594025 | CACATACA others(4): Show |
C | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124 | 1 | 326 | 0.0031 | -11 | c.737 others(30): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 9/23 | chr7 | TogoVar | ||||||
COPG2_chr7_130501238_130673748 | 130621943 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG02809.hp1 NA18906.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0241a0002c0003t0001g0242a0002c0003t0001g0243others(1): Show | 4 | 326 | 0.0123 | -11 | c.324 others(28): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 5/23 | chr7 | TogoVar | ||||||
COPG2_chr7_130501238_130673748 | 130651494 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG03688.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233a0001c0001t0002g0234 | 2 | 326 | 0.0061 | -11 | c.323 others(28): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 5/23 | chr7 | TogoVar | ||||||
COPS3_chr17_17241616_17286246 | 17245074 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 352 | 0.0028 | -11 | c.*20 others(22): Show |
COPS3 | ENSG00000141030.13 | transcript | ENST00000268717.10 | protein_coding | 1541 | chr17 | TogoVar | ||||||
COPS3_chr17_17241616_17286246 | 17285102 | GTTTTTTT others(4): Show |
G | upstream_gene_variant | MODIFIER | HG02622.hp1 HG03041.hp2 HG03209.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0045 | 7 | 352 | 0.0199 | -11 | c.-39 others(22): Show |
COPS3 | ENSG00000141030.13 | transcript | ENST00000268717.10 | protein_coding | 3857 | chr17 | TogoVar | ||||||
COPS4_chr4_83030183_83080818 | 83030893 | AACCAAGG others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 372 | 0.0027 | -11 | c.-43 others(22): Show |
COPS4 | ENSG00000138663.9 | transcript | ENST00000264389.7 | protein_coding | 4289 | chr4 | TogoVar | ||||||
COPS7A_chr12_6719046_6736865 | 6719240 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01257.hp1 HG01496.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0021others(5): Show | 17 | 474 | 0.0359 | -11 | c.-49 others(22): Show |
COPS7A | ENSG00000111652.10 | transcript | ENST00000543155.6 | protein_coding | 4805 | chr12 | TogoVar | ||||||
COPS7A_chr12_6719046_6736865 | 6722287 | TAAAAAAA others(4): Show |
T | upstream_gene_variant | MODIFIER | HG02451.hp1 NA19004.hp2 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0013a0001c0002t0004g0041 | 3 | 474 | 0.0063 | -11 | c.-19 others(22): Show |
COPS7A | ENSG00000111652.10 | transcript | ENST00000543155.6 | protein_coding | 1758 | chr12 | TogoVar | ||||||
COPZ1_chr12_54320131_54356846 | 54326961 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG02523.hp2 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0074a0001c0001t0001g0075a0001c0001t0001g0111others(2): Show | 5 | 368 | 0.0136 | -11 | c.18+ others(26): Show |
COPZ1 | ENSG00000111481.10 | transcript | ENST00000262061.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
COQ10B_chr2_197448552_197480310 | 197463934 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(40): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0011a0001c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(29): Show | 43 | 390 | 0.1103 | -11 | c.447 others(28): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COQ10B_chr2_197448552_197480310 | 197463955 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG02015.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0026others(11): Show | 19 | 390 | 0.0487 | -11 | c.447 others(28): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COQ10B_chr2_197448552_197480310 | 197463957 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00741.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041a0001c0001t0001g0054a0001c0001t0001g0153others(5): Show | 8 | 390 | 0.0205 | -11 | c.447 others(28): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COQ10B_chr2_197448552_197480310 | 197463959 | AAAAAAAT others(4): Show |
A | intron_variant | MODIFIER | HG02015.hp1 HG02109.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0010 | a0001c0001t0001g0337a0001c0004t0010g0052 | 2 | 390 | 0.0051 | -11 | c.447 others(28): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COQ10B_chr2_197448552_197480310 | 197463961 | AAAAATAT others(4): Show |
A | intron_variant | MODIFIER | HG01168.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0328 | 2 | 390 | 0.0051 | -11 | c.447 others(28): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COQ3_chr6_99364401_99399195 | 99378119 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0317 | 1 | 434 | 0.0023 | -11 | c.387 others(26): Show |
COQ3 | ENSG00000132423.12 | transcript | ENST00000254759.8 | protein_coding | 3/6 | chr6 | TogoVar | ||||||
COQ5_chr12_120498279_120534158 | 120526698 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02735.hp1 HG03490.hp1 HG03491.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0054a0001c0002t0002g0075a0001c0002t0002g0076others(5): Show | 8 | 388 | 0.0206 | -11 | c.202 others(28): Show |
COQ5 | ENSG00000110871.15 | transcript | ENST00000288532.11 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
COQ6_chr14_73945302_73968670 | 73952114 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG03041.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0003 | a0001c0001t0003g0108a0002c0003t0003g0107 | 2 | 456 | 0.0044 | -11 | c.164 others(28): Show |
COQ6 | ENSG00000119723.17 | transcript | ENST00000334571.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
COQ8A_chr1_226935294_226992544 | 226936611 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(49): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0046a0001c0001t0001g0053a0001c0001t0001g0054others(46): Show | 52 | 412 | 0.1262 | -11 | c.-37 others(22): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 3682 | chr1 | TogoVar | ||||||
CORIN_chr4_47589001_47843067 | 47632774 | TAGTTAGA others(4): Show |
T | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0138 | 1 | 264 | 0.0038 | -11 | c.219 others(30): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 16/21 | chr4 | TogoVar | ||||||
CORIN_chr4_47589001_47843067 | 47735942 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG02257.hp1 |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0010a0008c0011t0001 | a0001c0001t0010g0099a0008c0011t0001g0103 | 2 | 264 | 0.0076 | -11 | c.799 others(28): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 5/21 | chr4 | TogoVar | ||||||
CORIN_chr4_47589001_47843067 | 47779422 | ATTCTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG02630.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0002others(2): Show | a0001c0001t0001g0157a0001c0002t0001g0095a0001c0002t0001g0160others(5): Show | 8 | 264 | 0.0303 | -11 | c.409 others(28): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
CORO1A_chr16_30178602_30194076 | 30180377 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 342 | 0.0029 | -11 | c.-33 others(22): Show |
CORO1A | ENSG00000102879.17 | transcript | ENST00000219150.10 | protein_coding | 3224 | chr16 | TogoVar | ||||||
CORO1B_chr11_67430510_67448476 | 67446904 | CATTTCTG others(4): Show |
C | upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 354 | 0.0028 | -11 | c.-35 others(22): Show |
CORO1B | ENSG00000172725.14 | transcript | ENST00000341356.10 | protein_coding | 3429 | chr11 | TogoVar | ||||||
CORO1B_chr11_67430510_67448476 | 67446943 | TAGTTTAT others(4): Show |
T | upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 354 | 0.0028 | -11 | c.-35 others(22): Show |
CORO1B | ENSG00000172725.14 | transcript | ENST00000341356.10 | protein_coding | 3468 | chr11 | TogoVar |