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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL8A1_chr3_99633594_99804217 | 99795590 | CCCTCCAG others(2): Show |
C | disruptive_inframe_deletion | MODERATE | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0024 | a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show |
5 | 260 | 0.0192 | -9 | c.170 others(18): Show |
p.Pro others(13): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1900/5515 | 1701/2235 | 567/744 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
COL9A1_chr6_70211126_70308084 | 70255825 | TTGATATA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(110): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0004a0002c0008others(14): Show | a0001c0001t0004a0002c0004t0001a0002c0004t0003others(30): Show | a0001c0001t0004g0157 a0001c0001t0004g0259 a0002c0004t0001g0061 others(107): Show |
113 | 360 | 0.3139 | -9 | c.150 others(26): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 21/37 | chr6 | TogoVar | |||||||
COL9A1_chr6_70211126_70308084 | 70302204 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00609.hp1 others(90): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0012a0001c0019others(16): Show | a0001c0001t0002a0001c0001t0003a0001c0012t0001others(25): Show | a0001c0001t0002g0001 a0001c0001t0002g0284 a0001c0001t0002g0315 others(85): Show |
93 | 213 | 0.4366 | -9 | c.15- others(22): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 1/37 | chr6 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40309594 | ACAGATGG others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00609.hp2 others(66): Show |
a0001a0002a0004others(4): Show | a0001c0002a0002c0001a0002c0016others(5): Show | a0001c0002t0001a0002c0001t0001a0002c0016t0001others(7): Show | a0001c0002t0001g0007 a0001c0002t0001g0013 a0001c0002t0001g0020 others(33): Show |
69 | 436 | 0.1583 | -9 | c.846 others(24): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 16/31 | chr1 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40321128 | TATATATA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp1 others(79): Show |
a0001a0002a0006others(2): Show | a0001c0002a0001c0005a0001c0008others(5): Show | a0001c0002t0001a0001c0005t0001a0001c0008t0001others(5): Show | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0014 others(23): Show |
82 | 425 | 0.1929 | -9 | c.-39 others(20): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3843 | chr1 | TogoVar | |||||||
COLEC10_chr8_119062247_119113455 | 119069630 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp2 HG02451.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(2): Show | a0001c0001t0001g0203 a0001c0001t0005g0001 a0001c0001t0005g0024 others(6): Show |
9 | 374 | 0.0241 | -9 | c.148 others(26): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 319321 | TAAAAAAA others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01074.hp1 HG01106.hp2 HG02451.hp2 others(7): Show |
a0002a0003a0004 | a0002c0001a0003c0002a0003c0022others(1): Show | a0002c0001t0050a0002c0001t0164a0002c0001t0171others(7): Show | a0002c0001t0050g0240 a0002c0001t0164g0140 a0002c0001t0171g0139 others(7): Show |
10 | 237 | 0.0422 | -9 | c.*71 others(18): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 715 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 319334 | AAAAAAAA others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(27): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0004a0001c0005others(8): Show | a0001c0003t0004a0001c0003t0005a0001c0003t0058others(20): Show | a0001c0003t0004g0188 a0001c0003t0004g0351 a0001c0003t0005g0047 others(27): Show |
30 | 357 | 0.0840 | -9 | c.*70 others(18): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 702 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 338984 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(273): Show |
a0001a0002a0003others(7): Show | a0001c0003a0001c0004a0001c0005others(19): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(174): Show | a0001c0003t0001g0238 a0001c0003t0001g0300 a0001c0003t0002g0219 others(270): Show |
276 | 278 | 0.9928 | -9 | c.132 others(28): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 385316 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01167.hp1 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0005others(5): Show | a0001c0003t0026a0001c0003t0031a0001c0003t0047others(26): Show | a0001c0003t0026g0092 a0001c0003t0031g0289 a0001c0003t0047g0342 others(31): Show |
35 | 69 | 0.5072 | -9 | c.59- others(26): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COMMD10_chr5_116080025_116298287 | 116100579 | TTTCCCAT others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG01123.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0002 a0001c0001t0001g0081 a0001c0001t0001g0082 others(24): Show |
29 | 348 | 0.0833 | -9 | c.399 others(26): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116116703 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG03195.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0099 a0001c0002t0001g0108 a0001c0002t0001g0178 others(3): Show |
6 | 220 | 0.0273 | -9 | c.400 others(28): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 62078239 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02451.hp1 HG02922.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 others(6): Show |
9 | 147 | 0.0612 | -9 | c.463 others(28): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 62121371 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG02083.hp1 HG02129.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0041 others(23): Show |
26 | 67 | 0.3881 | -9 | c.463 others(28): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COMMD6_chr13_75520214_75542841 | 75524456 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(204): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(63): Show |
207 | 209 | 0.9904 | -9 | c.*21 others(20): Show |
COMMD6 | ENSG00000188243.14 | transcript | ENST00000682242.1 | protein_coding | 757 | chr13 | TogoVar | |||||||
COMMD6_chr13_75520214_75542841 | 75529520 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(96): Show |
291 | 310 | 0.9387 | -9 | c.207 others(24): Show |
COMMD6 | ENSG00000188243.14 | transcript | ENST00000682242.1 | protein_coding | 3/3 | chr13 | TogoVar | |||||||
COMT_chr22_19936772_19974975 | 19952993 | TAAATAAA others(2): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0057 others(3): Show |
6 | 424 | 0.0142 | -9 | c.-91 others(26): Show |
COMT | ENSG00000093010.15 | transcript | ENST00000361682.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
COP1_chr1_175939831_176212286 | 175976064 | GAAGGTCT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(245): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(245): Show |
248 | 298 | 0.8322 | -9 | c.213 others(30): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 18/19 | chr1 | TogoVar | |||||||
COP1_chr1_175939831_176212286 | 176019463 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG02602.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0197 a0001c0001t0003g0288 a0001c0001t0003g0299 others(5): Show |
8 | 95 | 0.0842 | -9 | c.172 others(28): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 15/19 | chr1 | TogoVar | |||||||
COPB2_chr3_139352406_139394647 | 139387264 | GAAAAAGA others(2): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0005t0001g0152 |
3 | 262 | 0.0115 | -9 | c.3+2 others(22): Show |
COPB2 | ENSG00000184432.11 | transcript | ENST00000333188.10 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
COPE_chr19_18894514_18924387 | 18902716 | AAAGGAAA others(2): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG01168.hp2 others(20): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(16): Show |
23 | 229 | 0.1004 | -9 | c.735 others(24): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | |||||||
COPE_chr19_18894514_18924387 | 18917233 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG01168.hp2 HG01515.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 others(7): Show |
14 | 328 | 0.0427 | -9 | c.126 others(26): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
COPG1_chr3_129244606_129282773 | 129263037 | AGTCCTTC others(2): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02451.hp2 NA21309.hp1 |
a0001 | a0001c0004a0001c0012a0001c0013 | a0001c0004t0002a0001c0012t0002a0001c0013t0002 | a0001c0004t0002g0081 a0001c0012t0002g0089 a0001c0013t0002g0088 |
3 | 270 | 0.0111 | -9 | c.112 others(26): Show |
COPG1 | ENSG00000181789.14 | transcript | ENST00000314797.10 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COPS9_chr2_240125828_240141305 | 240134994 | TGAAGCCT others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(311): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(40): Show |
314 | 440 | 0.7136 | -9 | c.64- others(22): Show |
COPS9 | ENSG00000172428.11 | transcript | ENST00000607357.2 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
COPZ1_chr12_54320131_54356846 | 54326961 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | NA18951.hp1 NA18970.hp1 NA19012.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0003 | a0001c0001t0001g0009 a0001c0001t0001g0073 a0001c0001t0001g0075 others(2): Show |
6 | 81 | 0.0741 | -9 | c.18+ others(24): Show |
COPZ1 | ENSG00000111481.10 | transcript | ENST00000262061.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
COQ10B_chr2_197448552_197480310 | 197463934 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00673.hp1 HG01361.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0030 others(12): Show |
20 | 234 | 0.0855 | -9 | c.447 others(26): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COQ10B_chr2_197448552_197480310 | 197463957 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG02970.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 others(4): Show |
7 | 376 | 0.0186 | -9 | c.447 others(26): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COQ5_chr12_120498279_120534158 | 120526698 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01099.hp1 HG01934.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0245 a0001c0001t0001g0272 a0001c0002t0002g0016 others(10): Show |
14 | 32 | 0.4375 | -9 | c.202 others(26): Show |
COQ5 | ENSG00000110871.15 | transcript | ENST00000288532.11 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
COQ8A_chr1_226935294_226992544 | 226988181 | AGGCCTGG others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01934.hp2 HG02083.hp1 HG02145.hp1 others(2): Show |
a0002 | a0002c0004a0002c0009 | a0002c0004t0008a0002c0009t0009 | a0002c0004t0008g0315 a0002c0004t0008g0316 a0002c0004t0008g0317 others(1): Show |
5 | 410 | 0.0122 | -9 | c.*14 others(20): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 638 | chr1 | TogoVar | |||||||
COQ8B_chr19_40686530_40721886 | 40708761 | CTACAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02615.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 others(4): Show |
7 | 408 | 0.0172 | -9 | c.367 others(26): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 5/14 | chr19 | TogoVar | |||||||
CORO2B_chr15_68573993_68732806 | 68649181 | TATGTCTA others(2): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02109.hp2 HG02145.hp1 others(18): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0074 a0001c0001t0001g0094 a0001c0001t0002g0022 others(18): Show |
21 | 254 | 0.0827 | -9 | c.216 others(26): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
CORO2B_chr15_68573993_68732806 | 68701297 | GTTTCTTT others(2): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02145.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0094 a0001c0001t0001g0179 a0001c0001t0001g0228 others(14): Show |
17 | 251 | 0.0677 | -9 | c.333 others(26): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CORO2B_chr15_68573993_68732806 | 68723116 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00738.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0002t0001others(6): Show | a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 others(27): Show |
30 | 80 | 0.3750 | -9 | c.131 others(28): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CORO7_chr16_4349542_4421596 | 4402241 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01070.hp1 others(21): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0014others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(2): Show | a0001c0002t0001g0005 a0001c0002t0001g0022 a0001c0002t0001g0023 others(19): Show |
24 | 293 | 0.0819 | -9 | c.564 others(26): Show |
CORO7 | ENSG00000262246.6 | transcript | ENST00000251166.9 | protein_coding | 6/27 | chr16 | TogoVar | |||||||
COX10_chr17_14064504_14213677 | 14137869 | TAGGTCAT others(2): Show |
T | intron_variant | MODIFIER | HG02132.hp1 NA18963.hp2 NA18977.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0138 others(1): Show |
4 | 320 | 0.0125 | -9 | c.625 others(28): Show |
COX10 | ENSG00000006695.12 | transcript | ENST00000261643.8 | protein_coding | 4/6 | chr17 | TogoVar | |||||||
COX17_chr3_119664532_119682406 | 119670751 | TTTGTGTG others(2): Show |
T | intron_variant | MODIFIER | NA18946.hp1 NA18946.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0045 |
3 | 418 | 0.0072 | -9 | c.*5- others(24): Show |
COX17 | ENSG00000138495.7 | transcript | ENST00000261070.7 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
COX6B1_chr19_35643323_35663782 | 35647250 | GAAAAAAA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01256.hp2 HG02055.hp1 HG02145.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(10): Show |
14 | 71 | 0.1972 | -9 | c.-11 others(20): Show |
COX6B1 | ENSG00000126267.11 | transcript | ENST00000649813.2 | protein_coding | 1072 | chr19 | TogoVar | |||||||
COX6B1_chr19_35643323_35663782 | 35656324 | AAAGAATG others(2): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 3 | 438 | 0.0068 | -9 | c.207 others(26): Show |
COX6B1 | ENSG00000126267.11 | transcript | ENST00000649813.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
COX7B2_chr4_46729827_46914245 | 46804563 | CAGAGTAG others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0074 a0001c0001t0003g0097 a0001c0001t0003g0152 others(2): Show |
5 | 298 | 0.0168 | -9 | c.-50 others(28): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67607169 | CTCTTCTT others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp2 HG01255.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0030 a0001c0001t0001g0076 a0001c0001t0001g0081 others(12): Show |
15 | 53 | 0.2830 | -9 | c.192 others(28): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67634179 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(43): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0001g0037 others(43): Show |
46 | 96 | 0.4792 | -9 | c.117 others(26): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
CPAMD8_chr19_16887951_17031810 | 16990863 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(93): Show |
a0001a0004a0005others(39): Show | a0001c0001a0001c0007a0001c0013others(60): Show | a0001c0001t0002a0001c0007t0002a0001c0013t0001others(60): Show | a0001c0001t0002g0048 a0001c0001t0002g0158 a0001c0001t0002g0185 others(93): Show |
96 | 173 | 0.5549 | -9 | c.126 others(28): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 12/41 | chr19 | TogoVar | |||||||
CPB2_chr13_46048186_46110033 | 46059577 | TATCATCA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0009others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0001others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(122): Show |
154 | 215 | 0.7163 | -9 | c.797 others(26): Show |
CPB2 | ENSG00000080618.17 | transcript | ENST00000181383.10 | protein_coding | 8/10 | chr13 | TogoVar | |||||||
CPEB1_chr15_82538201_82652363 | 82579918 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(55): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0013a0001c0006t0005a0002c0002t0002others(11): Show | a0001c0001t0013g0127 a0001c0006t0005g0277 a0002c0002t0002g0002 others(54): Show |
58 | 70 | 0.8286 | -9 | c.272 others(26): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92112126 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02257.hp1 HG02451.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0011 | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(4): Show |
7 | 96 | 0.0729 | -9 | c.145 others(26): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 6/9 | chr10 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92258626 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG03209.hp2 NA18747.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0007a0001c0002t0002others(1): Show | a0001c0001t0006g0212 a0001c0001t0007g0244 a0001c0002t0002g0092 others(2): Show |
5 | 162 | 0.0309 | -9 | c.-11 others(28): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
CPEB4_chr5_173883349_173966980 | 173905010 | TAATAATA others(2): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01070.hp1 HG01071.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0002g0012 a0001c0001t0002g0034 a0001c0001t0002g0197 others(21): Show |
27 | 370 | 0.0730 | -9 | c.112 others(28): Show |
CPEB4 | ENSG00000113742.14 | transcript | ENST00000265085.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 121078494 | GAAAGAAA others(2): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01074.hp1 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0043 a0001c0001t0001g0057 a0001c0001t0001g0058 others(32): Show |
35 | 132 | 0.2652 | -9 | c.616 others(28): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPE_chr4_165374008_165503547 | 165442027 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG02083.hp1 HG02135.hp1 HG02155.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0015 a0001c0001t0001g0155 a0001c0001t0001g0167 others(10): Show |
13 | 330 | 0.0394 | -9 | c.308 others(28): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CPN2_chr3_194334768_194356328 | 194338841 | CTTTCTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02647.hp1 others(3): Show |
a0001a0003a0004others(1): Show | a0001c0004a0003c0003a0004c0006others(2): Show | a0001c0004t0004a0003c0003t0006a0004c0006t0003others(2): Show | a0001c0004t0004g0040 a0003c0003t0006g0098 a0004c0006t0003g0105 others(2): Show |
6 | 401 | 0.0150 | -9 | c.*22 others(20): Show |
CPN2 | ENSG00000178772.7 | transcript | ENST00000323830.4 | protein_coding | 926 | chr3 | TogoVar |