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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CA1_chr8_85322608_85383113 | 85344081 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02965.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0033a0001c0001t0001g0049a0001c0001t0001g0113others(2): Show | 6 | 324 | 0.0185 | 8 | c.-24 others(25): Show |
CA1 | ENSG00000133742.14 | transcript | ENST00000523022.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
CA1_chr8_85322608_85383113 | 85376658 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02622.hp2 HG02717.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(2): Show | a0001c0001t0001g0046a0001c0001t0001g0053a0001c0001t0001g0057others(8): Show | 12 | 324 | 0.0370 | 8 | c.-25 others(25): Show |
CA1 | ENSG00000133742.14 | transcript | ENST00000523022.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
CA2_chr8_85459007_85486493 | 85463769 | A | AGGAGCCC others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(166): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(83): Show | 169 | 336 | 0.5030 | 8 | c.-31 others(17): Show |
CA2 | ENSG00000104267.10 | transcript | ENST00000285379.10 | protein_coding | 237 | chr8 | TogoVar | ||||||
CA2_chr8_85459007_85486493 | 85485728 | C | CATATATA others(1): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 NA18940.hp1 NA18950.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015a0001c0002t0001g0042a0001c0002t0001g0043 | 3 | 336 | 0.0089 | 8 | c.*49 others(19): Show |
CA2 | ENSG00000104267.10 | transcript | ENST00000285379.10 | protein_coding | 4236 | chr8 | TogoVar | ||||||
CA3_chr8_85433859_85454040 | 85445533 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02717.hp2 HG03017.hp2 others(1): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0002a0001c0001t0003a0007c0008t0002 | a0001c0001t0002g0034a0001c0001t0003g0016a0007c0008t0002g0055 | 4 | 364 | 0.0110 | 8 | c.507 others(23): Show |
CA3 | ENSG00000164879.7 | transcript | ENST00000285381.3 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CA4_chr17_60144973_60164546 | 60155498 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02818.hp1 HG06807.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0044a0002c0003t0001g0108 | 3 | 380 | 0.0079 | 8 | c.112 others(23): Show |
CA4 | ENSG00000167434.10 | transcript | ENST00000300900.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CA5A_chr16_87883013_87941529 | 87937767 | T | TTTTCTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG02280.hp1 HG02647.hp1 |
a0001a0003 | a0001c0001a0001c0003a0003c0006 | a0001c0001t0001a0001c0003t0002a0003c0006t0001 | a0001c0001t0001g0068a0001c0003t0002g0075a0003c0006t0001g0003 | 3 | 400 | 0.0075 | 8 | c.-13 others(19): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 1239 | chr16 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87939963 | C | CGATAGAT others(1): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02572.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0003a0002c0005t0001 | a0001c0001t0001g0037a0001c0001t0001g0062a0001c0001t0001g0072others(4): Show | 7 | 400 | 0.0175 | 8 | c.-35 others(19): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 3435 | chr16 | TogoVar | ||||||
CA5B_chrX_15733270_15793411 | 15736436 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG02015.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0001g0082a0001c0001t0001g0152a0001c0001t0003g0046others(3): Show | 6 | 274 | 0.0219 | 8 | c.-19 others(19): Show |
CA5B | ENSG00000169239.14 | transcript | ENST00000318636.8 | protein_coding | 1833 | chrX | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8960743 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG02818.hp2 others(1): Show |
a0002a0004 | a0002c0014a0004c0008a0004c0017 | a0002c0014t0001a0004c0008t0001a0004c0017t0001 | a0002c0014t0001g0200a0004c0008t0001g0221a0004c0017t0001g0222others(1): Show | 4 | 452 | 0.0089 | 8 | c.501 others(25): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CA6_chr1_8940868_8980092 | 8977700 | A | AAAAGAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00544.hp2 others(36): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0006a0002c0001others(7): Show | a0001c0002t0001a0001c0002t0004a0001c0006t0001others(9): Show | a0001c0002t0001g0011a0001c0002t0001g0253a0001c0002t0001g0258others(36): Show | 39 | 452 | 0.0863 | 8 | c.*29 others(19): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2609 | chr1 | TogoVar | ||||||
CA7_chr16_66839414_66859147 | 66855240 | C | CTTATTTA others(1): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00621.hp1 others(31): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(12): Show | 34 | 394 | 0.0863 | 8 | c.*17 others(19): Show |
CA7 | ENSG00000168748.14 | transcript | ENST00000338437.7 | protein_coding | 1094 | chr16 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60185172 | A | AAAATAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00673.hp2 HG00738.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(12): Show | a0001c0001t0002g0220a0001c0001t0002g0244a0001c0001t0002g0258others(30): Show | 35 | 344 | 0.1017 | 8 | c.*48 others(19): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 239 | chr8 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60185177 | G | GAATAAAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(90): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0009a0001c0001t0001g0206a0001c0001t0001g0208others(86): Show | 93 | 344 | 0.2704 | 8 | c.*48 others(19): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 234 | chr8 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60192937 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03098.hp1 HG03195.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0020others(4): Show | a0001c0001t0002g0220a0001c0001t0006g0028a0001c0001t0020g0284others(5): Show | 8 | 344 | 0.0233 | 8 | c.*36 others(25): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60215358 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG04115.hp2 NA18522.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0015a0001c0002t0013others(1): Show | a0001c0001t0001g0214a0001c0001t0001g0228a0001c0001t0015g0210others(3): Show | 6 | 344 | 0.0174 | 8 | c.739 others(25): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 7/8 | chr8 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60285765 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(182): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(30): Show | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0015others(175): Show | 185 | 344 | 0.5378 | 8 | c.-46 others(19): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 4366 | chr8 | TogoVar | ||||||
CAAP1_chr9_26835685_26897802 | 26836416 | A | AAAGACAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01192.hp2 HG01361.hp2 others(27): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0101others(26): Show | 30 | 372 | 0.0807 | 8 | c.*58 others(19): Show |
CAAP1 | ENSG00000120159.13 | transcript | ENST00000333916.8 | protein_coding | 4268 | chr9 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49351262 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02698.hp1 HG03239.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0239a0001c0001t0003g0012others(19): Show | 23 | 324 | 0.0710 | 8 | c.396 others(23): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 6/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49376891 | G | GTAGATAG others(1): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG02970.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0004g0062a0001c0001t0004g0063a0001c0001t0004g0299others(4): Show | 7 | 324 | 0.0216 | 8 | c.276 others(21): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49405719 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02647.hp2 HG03130.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0254a0001c0002t0001g0228a0001c0002t0001g0276 | 3 | 324 | 0.0093 | 8 | c.-31 others(27): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 3/10 | chr13 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230727363 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01891.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0018others(4): Show | a0001c0001t0001g0016a0001c0001t0001g0026a0001c0001t0011g0050others(5): Show | 8 | 342 | 0.0234 | 8 | c.-44 others(27): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAB39_chr2_230707842_230826075 | 230728239 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01515.hp2 HG01517.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0039a0001c0001t0044 | a0001c0001t0007g0121a0001c0001t0007g0122a0001c0001t0039g0120others(1): Show | 4 | 342 | 0.0117 | 8 | c.-44 others(27): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAB39_chr2_230707842_230826075 | 230773314 | A | ATATATGT others(1): Show |
intron_variant | MODIFIER | HG01943.hp2 HG01952.hp1 HG01993.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020a0001c0001t0056 | a0001c0001t0002g0090a0001c0001t0002g0245a0001c0001t0002g0246others(2): Show | 5 | 342 | 0.0146 | 8 | c.114 others(27): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAB39_chr2_230707842_230826075 | 230773314 | A | ATATGTGT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01978.hp2 HG02055.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(4): Show | a0001c0001t0001g0091a0001c0001t0001g0095a0001c0001t0001g0098others(14): Show | 17 | 342 | 0.0497 | 8 | c.114 others(27): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAB39_chr2_230707842_230826075 | 230773314 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02040.hp1 HG02055.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(6): Show | a0001c0001t0002g0338a0001c0001t0012g0175a0001c0001t0013g0130others(6): Show | 9 | 342 | 0.0263 | 8 | c.114 others(27): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAB39_chr2_230707842_230826075 | 230782789 | G | GTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00558.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0042a0001c0001t0001g0058a0001c0001t0001g0248others(46): Show | 49 | 342 | 0.1433 | 8 | c.115 others(25): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAB39_chr2_230707842_230826075 | 230813978 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG01993.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0016a0001c0001t0001g0052a0001c0001t0001g0069others(17): Show | 20 | 342 | 0.0585 | 8 | c.628 others(21): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CABCOCO1_chr10_61657929_61771766 | 61682889 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01192.hp1 HG02886.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0050others(11): Show | 14 | 374 | 0.0374 | 8 | c.334 others(25): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CABCOCO1_chr10_61657929_61771766 | 61703227 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01433.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0101a0001c0001t0001g0143a0001c0002t0002g0123 | 3 | 374 | 0.0080 | 8 | c.552 others(27): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CABCOCO1_chr10_61657929_61771766 | 61757700 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01081.hp1 HG01168.hp1 others(9): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0002a0001c0002t0006a0001c0008t0002 | a0001c0002t0002g0011a0001c0002t0002g0017a0001c0002t0002g0019others(9): Show | 12 | 374 | 0.0321 | 8 | c.553 others(25): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CABIN1_chr22_24006304_24183628 | 24011117 | A | ACACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG02145.hp2 HG02155.hp1 others(1): Show |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0019t0001 | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0001t0001g0242others(1): Show | 4 | 268 | 0.0149 | 8 | c.-32 others(17): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 186 | chr22 | TogoVar | ||||||
CABIN1_chr22_24006304_24183628 | 24011117 | A | ACGCACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG02451.hp2 HG03688.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0008t0001a0002c0002t0001 | a0001c0001t0001g0011a0001c0001t0001g0222a0001c0001t0001g0223others(3): Show | 6 | 268 | 0.0224 | 8 | c.-32 others(17): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 186 | chr22 | TogoVar | ||||||
CABIN1_chr22_24006304_24183628 | 24042818 | C | CTCTGTGT others(1): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18951.hp1 NA18974.hp2 others(2): Show |
a0001 | a0001c0004a0001c0009a0001c0011 | a0001c0004t0001a0001c0009t0001a0001c0011t0001 | a0001c0004t0001g0198a0001c0004t0001g0208a0001c0009t0001g0161others(2): Show | 5 | 268 | 0.0187 | 8 | c.346 others(21): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CABIN1_chr22_24006304_24183628 | 24042818 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG01257.hp1 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0027a0001c0001t0001g0028others(20): Show | 23 | 268 | 0.0858 | 8 | c.346 others(21): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CABIN1_chr22_24006304_24183628 | 24092687 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG01167.hp2 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0045a0001c0001t0001g0046others(23): Show | 26 | 268 | 0.0970 | 8 | c.378 others(25): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CABLES1_chr18_23130485_23265470 | 23174821 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 NA18945.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0014others(4): Show | a0001c0001t0004g0246a0001c0001t0006g0273a0001c0001t0014g0275others(4): Show | 7 | 278 | 0.0252 | 8 | c.846 others(27): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CABLES1_chr18_23130485_23265470 | 23177418 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02135.hp1 HG02165.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0002g0187others(13): Show | 16 | 278 | 0.0576 | 8 | c.846 others(27): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CABLES1_chr18_23130485_23265470 | 23184308 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03669.hp1 NA20905.hp2 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0041a0001c0001t0056a0001c0014t0036 | a0001c0001t0041g0252a0001c0001t0056g0010a0001c0014t0036g0079 | 3 | 278 | 0.0108 | 8 | c.846 others(25): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CABLES1_chr18_23130485_23265470 | 23202043 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01243.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0001g0274a0001c0001t0001g0276a0001c0001t0004g0238others(10): Show | 13 | 278 | 0.0468 | 8 | c.101 others(27): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CABLES1_chr18_23130485_23265470 | 23248512 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03453.hp1 HG03516.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0002c0002t0008 | a0001c0001t0002g0258a0001c0001t0007g0135a0001c0001t0007g0136others(2): Show | 5 | 278 | 0.0180 | 8 | c.144 others(27): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CABP1_chr12_120635626_120672324 | 120642995 | G | GAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(141): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0005 | a0001c0001t0001a0003c0004t0001a0004c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(90): Show | 144 | 418 | 0.3445 | 8 | c.654 others(25): Show |
CABP1 | ENSG00000157782.10 | transcript | ENST00000316803.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CABP4_chr11_67450354_67466752 | 67460514 | T | TACACACA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG03540.hp1 NA18985.hp1 NA19065.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0007 | 4 | 368 | 0.0109 | 8 | c.*18 others(19): Show |
CABP4 | ENSG00000175544.14 | transcript | ENST00000325656.7 | protein_coding | 6/6 | 1857 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
CABP5_chr19_48024383_48049079 | 48029798 | C | CAGAGAGA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00741.hp1 HG02698.hp2 HG02895.hp1 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0023a0001c0001t0045a0001c0005t0061others(2): Show | a0001c0001t0023g0158a0001c0001t0023g0160a0001c0001t0045g0166others(16): Show | 22 | 376 | 0.0585 | 8 | c.*75 others(17): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 6/6 | 758 | chr19 | TogoVar | |||||
CABP5_chr19_48024383_48049079 | 48037259 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02129.hp1 HG02630.hp1 others(5): Show |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0003a0001c0001t0007a0001c0001t0023others(2): Show | a0001c0001t0003g0027a0001c0001t0007g0161a0001c0001t0007g0162others(3): Show | 8 | 376 | 0.0213 | 8 | c.348 others(25): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48044399 | C | CCTTTGGA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(211): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(156): Show | 214 | 376 | 0.5692 | 8 | c.-47 others(17): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 321 | chr19 | TogoVar | ||||||
CABP7_chr22_29715003_29736833 | 29727209 | T | TTAAGGAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(208): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(58): Show | 211 | 438 | 0.4817 | 8 | c.110 others(23): Show |
CABP7 | ENSG00000100314.4 | transcript | ENST00000216144.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACFD1_chr9_133454978_133475848 | 133458555 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(215): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0001a0001c0001t0001g0025a0001c0001t0001g0034others(83): Show | 218 | 420 | 0.5191 | 8 | c.-15 others(19): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 1422 | chr9 | TogoVar | ||||||
CACFD1_chr9_133454978_133475848 | 133470223 | G | GTGTGTGT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00423.hp1 NA18969.hp1 NA18986.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0009 | 5 | 420 | 0.0119 | 8 | c.*15 others(19): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 5/5 | 1574 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
CACHD1_chr1_64465129_64698053 | 64466140 | A | ATGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0045a0001c0001t0017g0044 | 2 | 166 | 0.0121 | 8 | c.-46 others(19): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 3988 | chr1 | TogoVar |