| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| COMT_chr22_19936772_19974975 | 19952989 | TAAATAAA others(6): Show |
T | intron_variant | MODIFIER | HG01358.hp2 HG02257.hp2 HG02735.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0003a0002c0001t0001 | a0001c0003t0003g0281a0002c0001t0001g0061a0002c0001t0001g0080others(1): Show | 4 | 426 | 0.0094 | -13 | c.-91 others(30): Show |
COMT | ENSG00000093010.15 | transcript | ENST00000361682.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| COP1_chr1_175939831_176212286 | 175976270 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 300 | 0.0033 | -13 | c.213 others(34): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 18/19 | chr1 | TogoVar | ||||||
| COP1_chr1_175939831_176212286 | 176139279 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG01167.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0136a0001c0001t0001g0137a0001c0001t0001g0138others(6): Show | 9 | 300 | 0.0300 | -13 | c.832 others(30): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 6/19 | chr1 | TogoVar | ||||||
| COP1_chr1_175939831_176212286 | 176158630 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0266 | 1 | 300 | 0.0033 | -13 | c.762 others(30): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 5/19 | chr1 | TogoVar | ||||||
| COPA_chr1_160283594_160348250 | 160318479 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG00738.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0200a0001c0001t0001g0254a0001c0001t0001g0255others(25): Show | 29 | 366 | 0.0792 | -13 | c.707 others(30): Show |
COPA | ENSG00000122218.17 | transcript | ENST00000241704.8 | protein_coding | 8/32 | chr1 | TogoVar | ||||||
| COPA_chr1_160283594_160348250 | 160321473 | GATACAAA others(6): Show |
G | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0035 | 1 | 366 | 0.0027 | -13 | c.706 others(30): Show |
COPA | ENSG00000122218.17 | transcript | ENST00000241704.8 | protein_coding | 8/32 | chr1 | TogoVar | ||||||
| COPG1_chr3_129244606_129282773 | 129263033 | AAAGAGTC others(6): Show |
A | intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0069 | 1 | 326 | 0.0031 | -13 | c.112 others(30): Show |
COPG1 | ENSG00000181789.14 | transcript | ENST00000314797.10 | protein_coding | 12/23 | chr3 | TogoVar | ||||||
| COPG1_chr3_129244606_129282773 | 129263034 | AAGAGTCC others(6): Show |
A | intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0066 | 1 | 326 | 0.0031 | -13 | c.112 others(30): Show |
COPG1 | ENSG00000181789.14 | transcript | ENST00000314797.10 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| COPG2_chr7_130501238_130673748 | 130651494 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(57): Show |
a0001a0003a0006others(2): Show | a0001c0002a0003c0008a0006c0007others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0002t0001g0002a0001c0002t0001g0005a0001c0002t0001g0006others(57): Show | 60 | 326 | 0.1841 | -13 | c.323 others(30): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 5/23 | chr7 | TogoVar | ||||||
| COPS2_chr15_49117727_49160599 | 49119063 | GGGAGGCT others(6): Show |
G | downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0027 | a0001c0003t0027g0173 | 1 | 398 | 0.0025 | -13 | c.*88 others(24): Show |
COPS2 | ENSG00000166200.15 | transcript | ENST00000388901.10 | protein_coding | 3663 | chr15 | TogoVar | ||||||
| COPS2_chr15_49117727_49160599 | 49136916 | GAGGTAAA others(6): Show |
G | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 398 | 0.0025 | -13 | c.540 others(28): Show |
COPS2 | ENSG00000166200.15 | transcript | ENST00000388901.10 | protein_coding | 6/12 | chr15 | TogoVar | ||||||
| COPS2_chr15_49117727_49160599 | 49159259 | ATATCTTT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0001 | 1 | 398 | 0.0025 | -13 | c.-36 others(24): Show |
COPS2 | ENSG00000166200.15 | transcript | ENST00000388901.10 | protein_coding | 3661 | chr15 | TogoVar | ||||||
| COPS3_chr17_17241616_17286246 | 17245379 | CTGCCTAC others(6): Show |
C | downstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 352 | 0.0028 | -13 | c.*17 others(24): Show |
COPS3 | ENSG00000141030.13 | transcript | ENST00000268717.10 | protein_coding | 1236 | chr17 | TogoVar | ||||||
| COPS3_chr17_17241616_17286246 | 17282372 | CCCCCACT others(6): Show |
C | upstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 352 | 0.0028 | -13 | c.-11 others(24): Show |
COPS3 | ENSG00000141030.13 | transcript | ENST00000268717.10 | protein_coding | 1127 | chr17 | TogoVar | ||||||
| COPS4_chr4_83030183_83080818 | 83064869 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 372 | 0.0027 | -13 | c.887 others(30): Show |
COPS4 | ENSG00000138663.9 | transcript | ENST00000264389.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| COPS5_chr8_67038079_67067133 | 67056645 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 292 | 0.0034 | -13 | c.574 others(26): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 4/7 | chr8 | TogoVar | ||||||
| COPS5_chr8_67038079_67067133 | 67056651 | AAATATAT others(6): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 292 | 0.0034 | -13 | c.574 others(26): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 4/7 | chr8 | TogoVar | ||||||
| COPS5_chr8_67038079_67067133 | 67056653 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02738.hp2 HG03017.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0032a0001c0001t0001g0050a0001c0001t0001g0051others(2): Show | 5 | 292 | 0.0171 | -13 | c.574 others(26): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 4/7 | chr8 | TogoVar | ||||||
| COPS9_chr2_240125828_240141305 | 240128306 | AAACAGGA others(6): Show |
A | downstream_gene_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 442 | 0.0023 | -13 | c.*27 others(24): Show |
COPS9 | ENSG00000172428.11 | transcript | ENST00000607357.2 | protein_coding | 2521 | chr2 | TogoVar | ||||||
| COPZ1_chr12_54320131_54356846 | 54326961 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0292 | 1 | 368 | 0.0027 | -13 | c.18+ others(28): Show |
COPZ1 | ENSG00000111481.10 | transcript | ENST00000262061.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| COPZ1_chr12_54320131_54356846 | 54339944 | TTTTACTA others(6): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01257.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0050others(7): Show | 10 | 368 | 0.0272 | -13 | c.19- others(26): Show |
COPZ1 | ENSG00000111481.10 | transcript | ENST00000262061.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
| COPZ2_chr17_48021167_48042797 | 48025499 | ACAGGTTC others(6): Show |
A | downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 396 | 0.0025 | -13 | c.*91 others(22): Show |
COPZ2 | ENSG00000005243.10 | transcript | ENST00000621465.5 | protein_coding | 667 | chr17 | TogoVar | ||||||
| COQ10B_chr2_197448552_197480310 | 197463934 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01496.hp1 HG02132.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226a0001c0001t0001g0234a0001c0001t0001g0235others(5): Show | 8 | 390 | 0.0205 | -13 | c.447 others(30): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COQ10B_chr2_197448552_197480310 | 197463953 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp2 HG01070.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0220a0001c0001t0001g0229others(10): Show | 14 | 390 | 0.0359 | -13 | c.447 others(30): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COQ10B_chr2_197448552_197480310 | 197463955 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG03492.hp2 HG03688.hp1 HG03834.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0019a0001c0001t0001g0042a0001c0001t0001g0063others(5): Show | 8 | 390 | 0.0205 | -13 | c.447 others(30): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COQ10B_chr2_197448552_197480310 | 197463957 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG03471.hp2 NA18522.hp2 NA18983.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209a0001c0001t0001g0282a0001c0001t0001g0283others(1): Show | 4 | 390 | 0.0103 | -13 | c.447 others(30): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COQ10B_chr2_197448552_197480310 | 197463959 | AAAAAAAT others(6): Show |
A | intron_variant | MODIFIER | HG02897.hp1 HG02970.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329a0001c0001t0001g0332a0001c0001t0001g0339 | 3 | 390 | 0.0077 | -13 | c.447 others(30): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COQ3_chr6_99364401_99399195 | 99385986 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0061 | 1 | 434 | 0.0023 | -13 | c.107 others(30): Show |
COQ3 | ENSG00000132423.12 | transcript | ENST00000254759.8 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
| COQ5_chr12_120498279_120534158 | 120510664 | AGTTAAAA others(6): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG01516.hp2 HG01517.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0189a0001c0001t0003g0190a0001c0001t0003g0191others(4): Show | 7 | 388 | 0.0180 | -13 | c.575 others(28): Show |
COQ5 | ENSG00000110871.15 | transcript | ENST00000288532.11 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
| COQ5_chr12_120498279_120534158 | 120526698 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG03486.hp2 NA18985.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150a0001c0001t0001g0155a0001c0001t0001g0186others(2): Show | 5 | 388 | 0.0129 | -13 | c.202 others(30): Show |
COQ5 | ENSG00000110871.15 | transcript | ENST00000288532.11 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
| COQ8A_chr1_226935294_226992544 | 226940157 | TACGGGCC others(6): Show |
T | upstream_gene_variant | MODIFIER | HG03834.hp2 | a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0370 | 1 | 412 | 0.0024 | -13 | c.-25 others(22): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 136 | chr1 | TogoVar | ||||||
| COQ8A_chr1_226935294_226992544 | 226968273 | TGCAGTGA others(6): Show |
T | intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 412 | 0.0024 | -13 | c.655 others(30): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 4/14 | chr1 | TogoVar | ||||||
| COQ9_chr16_57442479_57466270 | 57445834 | GTTTTTTT others(6): Show |
G | upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 404 | 0.0025 | -13 | c.-16 others(24): Show |
COQ9 | ENSG00000088682.14 | transcript | ENST00000262507.11 | protein_coding | 1644 | chr16 | TogoVar | ||||||
| CORIN_chr4_47589001_47843067 | 47779425 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 264 | 0.0038 | -13 | c.409 others(30): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
| CORO1C_chr12_108640109_108736518 | 108683946 | TTGAAGCC others(6): Show |
T | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0102 | 1 | 326 | 0.0031 | -13 | c.196 others(30): Show |
CORO1C | ENSG00000110880.11 | transcript | ENST00000261401.8 | protein_coding | 2/10 | chr12 | TogoVar | ||||||
| CORO1C_chr12_108640109_108736518 | 108721770 | ACAGGACG others(6): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02886.hp1 HG03098.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0021a0003c0004t0014 | a0001c0001t0001g0261a0001c0001t0021g0321a0003c0004t0014g0134 | 3 | 326 | 0.0092 | -13 | c.-6+ others(28): Show |
CORO1C | ENSG00000110880.11 | transcript | ENST00000261401.8 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| CORO2A_chr9_98115975_98197637 | 98119802 | GTTTTTGT others(6): Show |
G | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01516.hp2 HG02293.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0001c0001t0006a0001c0001t0035others(1): Show | a0001c0001t0001g0020a0001c0001t0001g0083a0001c0001t0001g0093others(10): Show | 13 | 342 | 0.0380 | -13 | c.*49 others(24): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1172 | chr9 | TogoVar | ||||||
| CORO2A_chr9_98115975_98197637 | 98196836 | CGTGAGCC others(6): Show |
C | upstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 342 | 0.0029 | -13 | c.-42 others(24): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 4200 | chr9 | TogoVar | ||||||
| COX15_chr10_99705868_99737127 | 99729422 | TGCACTCC others(6): Show |
T | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 422 | 0.0024 | -13 | c.272 others(28): Show |
COX15 | ENSG00000014919.13 | transcript | ENST00000016171.6 | protein_coding | 2/8 | chr10 | TogoVar | ||||||
| COX4I1_chr16_85794695_85812068 | 85798114 | GTTTTTTT others(6): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0044 | 2 | 432 | 0.0046 | -13 | c.-16 others(24): Show |
COX4I1 | ENSG00000131143.10 | transcript | ENST00000253452.8 | protein_coding | 1580 | chr16 | TogoVar | ||||||
| COX5A_chr15_74914791_74943073 | 74931016 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 428 | 0.0023 | -13 | c.101 others(30): Show |
COX5A | ENSG00000178741.12 | transcript | ENST00000322347.11 | protein_coding | 1/4 | chr15 | TogoVar | ||||||
| COX5A_chr15_74914791_74943073 | 74933418 | AATATCTA others(6): Show |
A | intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 428 | 0.0023 | -13 | c.101 others(30): Show |
COX5A | ENSG00000178741.12 | transcript | ENST00000322347.11 | protein_coding | 1/4 | chr15 | TogoVar | ||||||
| COX7A2_chr6_75232787_75248801 | 75242090 | ATCGGGAG others(6): Show |
A | intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 382 | 0.0026 | -13 | c.19- others(26): Show |
COX7A2 | ENSG00000112695.13 | transcript | ENST00000684430.2 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| COX7B2_chr4_46729827_46914245 | 46768353 | ATCTAGCT others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(122): Show |
a0000a0001a0002 | a0000c0002a0001c0001a0002c0003 | a0000c0002t0003a0001c0001t0001a0001c0001t0002others(5): Show | a0000c0002t0003g0233a0001c0001t0001g0002a0001c0001t0001g0097others(120): Show | 125 | 300 | 0.4167 | -13 | c.-49 others(32): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
| CPA3_chr3_148860296_148902203 | 148899547 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | NA18942.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196a0001c0001t0001g0197 | 2 | 400 | 0.0050 | -13 | c.*28 others(24): Show |
CPA3 | ENSG00000163751.4 | transcript | ENST00000296046.4 | protein_coding | 2345 | chr3 | TogoVar | ||||||
| CPA4_chr7_130288161_130329180 | 130315915 | GGTAAATG others(6): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02258.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0015 | a0002c0002t0001g0047a0002c0002t0001g0048a0002c0002t0001g0178others(4): Show | 8 | 402 | 0.0199 | -13 | c.107 others(32): Show |
CPA4 | ENSG00000128510.12 | transcript | ENST00000222482.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CPA5_chr7_130339816_130373730 | 130343167 | CTCTTTCT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0063 | 1 | 412 | 0.0024 | -13 | c.-21 others(24): Show |
CPA5 | ENSG00000158525.16 | transcript | ENST00000474905.6 | protein_coding | 1648 | chr7 | TogoVar | ||||||
| CPAMD8_chr19_16887951_17031810 | 16949003 | AAAAGAAA others(6): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02572.hp2 HG02647.hp2 others(1): Show |
a0074a0088a0092others(1): Show | a0074c0080a0088c0047a0092c0173others(1): Show | a0074c0080t0001a0088c0047t0001a0092c0173t0001others(1): Show | a0074c0080t0001g0082a0088c0047t0001g0161a0092c0173t0001g0164others(1): Show | 4 | 278 | 0.0144 | -13 | c.250 others(32): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 20/41 | chr19 | TogoVar | ||||||
| CPAMD8_chr19_16887951_17031810 | 16987172 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0029 | a0029c0067 | a0029c0067t0001 | a0029c0067t0001g0004 | 1 | 278 | 0.0036 | -13 | c.139 others(32): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 13/41 | chr19 | TogoVar | ||||||
| CPD_chr17_30373927_30474989 | 30398235 | GAACAGAA others(6): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG02257.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0021a0001c0001t0009g0022a0001c0001t0009g0023others(1): Show | 4 | 296 | 0.0135 | -13 | c.994 others(32): Show |
CPD | ENSG00000108582.12 | transcript | ENST00000225719.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |