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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C6orf141_chr6_49545668_49557095 | 49550613 | G | GAGAGGCG others(8): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 414 | 0.0024 | 15 | c.-18 others(24): Show |
C6orf141 | ENSG00000197261.12 | transcript | ENST00000529246.4 | protein_coding | 54 | chr6 | TogoVar | ||||||
C6orf89_chr6_36880952_36933964 | 36907275 | C | CTTTTGTT others(8): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03209.hp2 |
a0001 | a0001c0002 | a0001c0002t0019a0001c0002t0039 | a0001c0002t0019g0101a0001c0002t0039g0093 | 2 | 396 | 0.0051 | 15 | c.403 others(32): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40965648 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0047 | 1 | 380 | 0.0026 | 15 | c.188 others(32): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40978873 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0266 | 1 | 380 | 0.0026 | 15 | c.216 others(32): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7orf31_chr7_25129692_25185354 | 25161798 | A | AAAATAAT others(8): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0188 | 1 | 416 | 0.0024 | 15 | c.312 others(30): Show |
C7orf31 | ENSG00000153790.12 | transcript | ENST00000283905.8 | protein_coding | 3/9 | chr7 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148597730 | A | ATTTGTTT others(8): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 444 | 0.0023 | 15 | c.204 others(32): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf50_chr7_992006_1143247 | 1023624 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG02132.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028 | a0001c0001t0001g0101a0001c0001t0028g0201 | 2 | 326 | 0.0061 | 15 | c.130 others(34): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1059526 | C | CGGGTCTT others(8): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01071.hp2 HG01074.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010a0001c0001t0026 | a0001c0001t0007g0118a0001c0001t0007g0124a0001c0001t0007g0126others(15): Show | 18 | 326 | 0.0552 | 15 | c.130 others(34): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1059819 | G | GTAGTGGG others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02109.hp1 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0002g0242a0001c0001t0002g0299a0001c0001t0003g0293others(27): Show | 30 | 326 | 0.0920 | 15 | c.130 others(34): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1059883 | G | GTAGTGAG others(8): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03098.hp2 NA19079.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0010 | a0001c0001t0004g0180a0001c0001t0004g0182a0001c0001t0007g0118others(1): Show | 4 | 326 | 0.0123 | 15 | c.130 others(34): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1059971 | G | GTAGTGGG others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(262): Show | 265 | 326 | 0.8129 | 15 | c.130 others(34): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1059986 | T | TTAGTGGG others(8): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03540.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0293a0002c0002t0003g0288 | 2 | 326 | 0.0061 | 15 | c.130 others(34): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1060034 | G | GTAGTGAG others(8): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00733.hp2 others(112): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0029a0001c0001t0002g0208a0001c0001t0002g0209others(112): Show | 115 | 326 | 0.3528 | 15 | c.130 others(34): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48051817 | C | CTCTTCTT others(8): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0133 | 1 | 404 | 0.0025 | 15 | c.606 others(30): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68331770 | C | CTTTCCTT others(8): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02698.hp2 HG02809.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0029a0001c0001t0001g0030a0002c0003t0001g0027others(1): Show | 4 | 128 | 0.0313 | 15 | c.327 others(30): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68331783 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01243.hp2 NA19240.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0001 | a0001c0002t0001g0103a0002c0004t0001g0104 | 2 | 128 | 0.0156 | 15 | c.327 others(30): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68376184 | C | CATAAAAT others(8): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01071.hp1 others(35): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0021others(35): Show | 38 | 128 | 0.2969 | 15 | c.327 others(34): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf74_chr8_10667628_10705590 | 10704003 | T | TAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02486.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0003t0002others(1): Show | a0001c0001t0001g0092a0001c0001t0001g0254a0002c0002t0002g0016others(4): Show | 7 | 430 | 0.0163 | 15 | c.*35 others(26): Show |
C8orf74 | ENSG00000171060.11 | transcript | ENST00000304519.10 | protein_coding | 3414 | chr8 | TogoVar | ||||||
C9orf152_chr9_110194561_110213159 | 110198893 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00673.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0002a0001c0001t0002g0008a0001c0001t0002g0144others(11): Show | 21 | 466 | 0.0451 | 15 | c.*20 others(26): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 667 | chr9 | TogoVar | ||||||
C9orf152_chr9_110194561_110213159 | 110209892 | A | AAAGAGAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00639.hp2 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0023others(28): Show | 45 | 466 | 0.0966 | 15 | c.-23 others(26): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 1734 | chr9 | TogoVar | ||||||
C9orf152_chr9_110194561_110213159 | 110209936 | A | AGAAGAGA others(8): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0043 | a0001c0002t0043g0153 | 1 | 466 | 0.0022 | 15 | c.-23 others(26): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 1778 | chr9 | TogoVar | ||||||
C9orf78_chr9_129822290_129840275 | 129824606 | A | AAATAATA others(8): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00621.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0008a0001c0002t0002a0001c0004t0003 | a0001c0001t0008g0029a0001c0002t0002g0002a0001c0002t0002g0010others(10): Show | 58 | 386 | 0.1503 | 15 | c.*35 others(26): Show |
C9orf78 | ENSG00000136819.15 | transcript | ENST00000372447.7 | protein_coding | 2683 | chr9 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51707704 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 156 | 0.0064 | 15 | c.465 others(34): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 4/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51831690 | G | GCAGCAGC others(8): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02109.hp2 HG02258.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0069a0001c0001t0001g0137a0001c0001t0002g0014others(3): Show | 6 | 156 | 0.0385 | 15 | c.280 others(34): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 52160791 | A | ATTATTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0111a0001c0001t0001g0115a0001c0001t0004g0100others(2): Show | 5 | 156 | 0.0321 | 15 | c.-30 others(26): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 2078 | chr17 | TogoVar | ||||||
CA12_chr15_63316378_63386846 | 63376557 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0151 | 1 | 356 | 0.0028 | 15 | c.86- others(28): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87926221 | T | TATAAAAT others(8): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03491.hp2 HG03669.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0002 | a0001c0001t0001g0179a0001c0002t0002g0260a0001c0002t0002g0261others(5): Show | 8 | 400 | 0.0200 | 15 | c.340 others(30): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87940803 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0359 | 1 | 400 | 0.0025 | 15 | c.-43 others(26): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 4275 | chr16 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8959931 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0429 | 1 | 452 | 0.0022 | 15 | c.501 others(30): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CA6_chr1_8940868_8980092 | 8977700 | A | AAAAGAAG others(8): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0187 | 1 | 452 | 0.0022 | 15 | c.*29 others(26): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2609 | chr1 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8977709 | A | AAAGAAAG others(8): Show |
downstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0179 | 1 | 452 | 0.0022 | 15 | c.*30 others(26): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2618 | chr1 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8977713 | A | AAAGAAAG others(8): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 NA18906.hp2 NA19076.hp1 |
a0001a0004a0005 | a0001c0006a0004c0008a0005c0018 | a0001c0006t0013a0004c0008t0001a0005c0018t0003 | a0001c0006t0013g0331a0004c0008t0001g0412a0005c0018t0003g0115 | 3 | 452 | 0.0066 | 15 | c.*30 others(26): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2622 | chr1 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8977749 | A | AAAGAAAG others(8): Show |
downstream_gene_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0279 | 1 | 452 | 0.0022 | 15 | c.*30 others(26): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2658 | chr1 | TogoVar | ||||||
CAAP1_chr9_26835685_26897802 | 26847198 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 372 | 0.0027 | 15 | c.740 others(32): Show |
CAAP1 | ENSG00000120159.13 | transcript | ENST00000333916.8 | protein_coding | 5/5 | chr9 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49346120 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG01099.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200a0001c0001t0001g0309 | 2 | 324 | 0.0062 | 15 | c.565 others(32): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 7/10 | chr13 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230748827 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0254 | 1 | 342 | 0.0029 | 15 | c.-43 others(34): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230748831 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01952.hp1 HG02015.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0246a0001c0001t0002g0283a0001c0001t0002g0286 | 3 | 342 | 0.0088 | 15 | c.-43 others(34): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAB39_chr2_230707842_230826075 | 230748831 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0281 | 1 | 342 | 0.0029 | 15 | c.-43 others(34): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAB39_chr2_230707842_230826075 | 230748831 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01255.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0294a0001c0001t0011g0309 | 2 | 342 | 0.0059 | 15 | c.-43 others(34): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230783442 | A | AGTTTTGT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0042a0001c0001t0001g0255a0001c0001t0001g0258others(67): Show | 70 | 342 | 0.2047 | 15 | c.115 others(32): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAB39_chr2_230707842_230826075 | 230825154 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0055a0001c0001t0060 | a0001c0001t0055g0136a0001c0001t0060g0024 | 2 | 342 | 0.0059 | 15 | c.*64 others(26): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 4080 | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230825704 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG02486.hp2 NA18962.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0054a0001c0001t0055 | a0001c0001t0003g0218a0001c0001t0003g0236a0001c0001t0054g0137others(1): Show | 4 | 342 | 0.0117 | 15 | c.*70 others(26): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 4630 | chr2 | TogoVar | ||||||
CABCOCO1_chr10_61657929_61771766 | 61662996 | G | GGGGCCGA others(8): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(361): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(353): Show | 364 | 374 | 0.9733 | 15 | c.38_ others(20): Show |
p.Ala others(26): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 1/8 | 83/1688 | 39/891 | 13/296 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
CABCOCO1_chr10_61657929_61771766 | 61663005 | C | CCCGGCAG others(8): Show |
disruptive_inframe_insertion | MODERATE | NA18940.hp1 NA18963.hp2 NA18973.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0189a0001c0004t0001g0190a0001c0004t0001g0192others(3): Show | 6 | 374 | 0.0160 | 15 | c.38_ others(20): Show |
p.Ala others(26): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 1/8 | 83/1688 | 39/891 | 13/296 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
CABCOCO1_chr10_61657929_61771766 | 61669020 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(51): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0312a0001c0001t0001g0313others(49): Show | 54 | 374 | 0.1444 | 15 | c.61- others(30): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CABCOCO1_chr10_61657929_61771766 | 61677065 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02258.hp1 HG02572.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0313a0001c0001t0001g0314a0001c0001t0001g0320others(13): Show | 16 | 374 | 0.0428 | 15 | c.165 others(32): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CABIN1_chr22_24006304_24183628 | 24042877 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0171 | 1 | 268 | 0.0037 | 15 | c.346 others(28): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 5/36 | chr22 | TogoVar | ||||||
CABIN1_chr22_24006304_24183628 | 24136524 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02451.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0008t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0011others(7): Show | 10 | 268 | 0.0373 | 15 | c.474 others(34): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CABLES1_chr18_23130485_23265470 | 23181496 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0273 | 1 | 278 | 0.0036 | 15 | c.846 others(32): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CABLES1_chr18_23130485_23265470 | 23209802 | G | GAGACATT others(8): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG00642.hp2 others(40): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0008a0001c0001t0001g0021a0001c0001t0001g0047others(40): Show | 43 | 278 | 0.1547 | 15 | c.101 others(34): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |